Abdominal migraine in children facts Abdominal migraine is believed to be a variant of migraine that is common in children but rare in adults. Abdominal migraine is characterized by pain in the center of the abdomen that may be severe. Symptoms can last for one hour or up to a several days. Nausea and vomiting may be associated with the pain. Sleep typically brings relief from abdominal mi  Read More

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present. Among babies born with Apert syndrome, the fibrous joints between  Read More

Aplasia cutis congenita is a rare disorder that can cause significant skin loss at birth. Its diagnosis and treatment can be challenging, and there is currently no known cure. However, there are some effective treatments available that can help improve the appearance of the skin and minimize the risk of infection. There is no established cure or medication for aplasia cutis congenita. However, the condition is oft  Read More

There is currently no cure for auditory processing disorder in children, however, there are treatments that can help improve a child’s symptoms.1. Medications such as stimulants and antidepressants have been shown to be effective in some cases, but they are not always necessary. These are known to be effective because they can help improve focus and attention, which can be beneficial for children with an audi  Read More

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood. However, this disorder is not progressive in adulthood.  Read More

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood. However, this disorder is not progressive in adulthood.  Read More

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movem  Read More

Clubfoot is a general term used to describe a group of deformities of the ankles and/or feet that are usually present at birth (congenital). The defect may be mild or severe and may affect one or both of the ankles and/or feet. Different forms of clubfoot may include talipes equinovarus in which the foot is turned inward and downward; calcaneal valgus in which the foot is angled at the heel with the toes pointing upward and outward; and metata  Read More

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curv  Read More

Cantrell pentalogy, also known as thoracoabdominal syndrome, is an incredibly uncommon birth condition. Cantrell pentalogy, as the name suggests, is a collection of five birth abnormalities affecting the sternum (breastbone), diaphragm (muscle that separates the chest and abdominal compartments and aids in breathing), and the heart, and the abdomen wall. Cure or medication available for Cantrell pentalogy  Read More

A diverse collection of hereditary illnesses known as Charcot-marie-tooth roussy levy disease manifests as a chronic, progressive neuropathy that affects both the motor and sensory neurons. The Charcot-marie-tooth roussy levy disease has no known cure and treatment. However, the condition usually advances gradually and has no impact on the projected life span. You can manage Charcot-marie-tooth roussy levy disease  Read More

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called acute lymphocytic leukemia or ALL) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. It is the most common type of cancer in children. Normally, the bone marrow m  Read More

Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected individuals are free of severe nausea and vomiting. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. Also, in cyclic vomiting  Read More

Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect  Read More

Childhood obesity can be managed by following certain therapies and weight-loss programs directed by pediatricians or therapists. 1. Therapy for childhood obesity is determined by your child's age and the presence of underlying medical issues. Treatment usually entails modifications in your child's food choices and amount of physical exercise. In some cases, treatment may entail drugs or weight-loss surgery. 2. Chi  Read More

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypo  Read More

For many parents, there is nothing more stressful than listening to an inconsolably crying newborn. Colic generally leads to long stretches of such crying. It can be a very difficult for parents, friends, and family who are already dealing with one of the most rewarding but potentially stressful experiences in life, a new baby at home. Colic facts Colic is self-limited and episodic. Overfeeding, undiluted juice  Read More

Cradle cap causes crusty or oily scaly patches on a baby's scalp. The condition isn't painful or itchy. But it can cause thick white or yellow scales that aren't easy to remove. Cradle cap usually clears up on its own in a few months. Home-care measures include washing your baby's scalp daily with a mild shampoo. This can help loosen and remove the scales. Don't scratch cradle cap. If cradle cap persists or seems severe, your d  Read More

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differe  Read More

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures  Read More

Also known as Baller-Gerold Syndrome, craniosynostosis-radial aplasia syndrome is an uncommon hereditary condition which manifests at birth (congenital). A distinctively misshapen skull, facial (craniofacial) region, and bones of the forearms and hands are typical characteristics of BGS. 1. Surgery is used to treat BGS in order to ease the pressure that the craniosynostosis has placed inside the skull. To do this,  Read More

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures  Read More

Cystinuria facts Cystinuria is a relatively common inherited disorder. The disorder is due to a defect in the transport of amino acids including one called cystine. Cystinuria features too much cystine in the urine. Cystine is highly insoluble, precipitates out of solution and forms stones in the urine. All the signs and symptoms of cystinuria are due to the stones. The stones ca  Read More

Renal medulla, congenital also known as Medullary sponge kidney, is a kidney disease. There is no specific treatment for Renal medulla, congenital. It is centered around managing urinary tract infections and kidney stones. 1. The standard treatment for urinary tract infections is antibiotics. 2. Treatment for kidney stones depends mainly on stone size. If the stone is small in size, it shall pas  Read More

Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

Hearing loss can affect a child’s ability to develop speech, language, and social skills. The earlier children with hearing loss start getting services, the more likely they are to reach their full potential. Hearing loss can happen when any part of the ear is not working in the usual way. Genetic factors are thought to cause more than 50% of all incidents of congenital hearing loss in children. Geneti  Read More

Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects. Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include: Flattened face  Read More

Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked rec  Read More

Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from t  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Dysmyelogenic leukodystrophy-megalobare or Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially, it was detected most often during infancy or early childhood. Alexander disease has historically been included among the leukodystrophies–diseases of the white matter of the brain. These diseases affect the fatty material (myelin) that forms an insulating sheath around  Read More

Dysplasia epiphysealis punctata is a rare condition characterized by the presence of stippled epiphyses at birth in association with other connective tissue disturbances. It is also known under a variety of names such as chondrodystrophia foetalis calcificans, stippled epiphyses, or congenital multiple epiphyseal dysplasia. It is also called Conradi Disease. Two main forms are recognized 1. The classic  Read More

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people Ectrodactyly, which is  Read More

Encephalitis (en-sef-uh-LIE-tis) is inflammation of the brain. There are several causes, including viral infection, autoimmune inflammation, bacterial infection, insect bites and others. Sometimes there is no known cause. Encephalitis may cause only mild flu-like signs and symptoms — such as a fever or headache — or no symptoms at all. Sometimes the flu-like symptoms are more severe. Encephalitis can also cause severe sympt  Read More

Because epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symptoms may include: Temporary confusion A staring spell Uncontrollable jerking movements of the arms and legs Loss of consciousness or awareness Psychic symptoms such as fear, anxiety or deja vu Symptoms vary depending on the type of seiz  Read More

Epilepsy and Multiple subpial transection (MST) is a technique used to disconnect areas of the brain where seizure activity occurs. The goal of the surgery is to stop the spread of irregular electrical activity that causes seizures. The procedure may be recommended when the area of epileptic activity in the brain is not able to be resected and does not respond to medication. The surgery aims to destroy fibers that  Read More

temporal lobe resection is a treatment not a disorder  Read More

More than 10 uncommon "progressive" epilepsies are grouped together as epilepsy, myoclonic progressive familial. The motor abilities, balance, and cognitive function of people with myoclonic progressive families deteriorate over time.Myoclonic and tonic-clonic seizures coexist in myoclonic progressive familial (rapid muscle jerks of multiple body parts). Unsteadiness, muscle rigidity (tightness of the muscles), bal  Read More

An extratemporal cortical resection is an operation to resect, or cut away, brain tissue that contains a seizure focus. Extratemporal means the tissue is located in an area of the brain other than the temporal lobe. The frontal lobe is the most common extratemporal site for seizures. In some cases, tissue may be removed from more than one area/lobe of the brain. Extratemporal cortical resection may be an option for people with epilepsy whose  Read More

Medication is usually the first line of treatment for vagus nerve stimulation (VNS). In the event that drugs are ineffective, doctors could recommend surgery or another form of treatment. 1. Medication The majority of epileptics can go epilepsy-free by using one anti-seizure medicine, commonly known as an anti-epileptic drug. A combination of drugs may help some people reduce the frequency and severity of th  Read More

Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.  Read More

Febrile seizures are convulsions brought on by a fever in infants or small children. How common are febrile seizures? Approximately one in every 25 children will have at least one febrile seizure, and more than one-third of these children will have additional febrile seizures before they outgrow the tendency to have them. Febrile seizures usually occur in children between the ages of 6 months and 5 years and are particularly co  Read More

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypo  Read More

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extrem  Read More

Froehlich syndrome is an unique childhood metabolic condition characterised by obesity, developmental delay, and slowed genital organ development. Here are the risk factors for Froehlich syndrome: Froehlich syndrome is caused by an injury to the hypothalamus. The hypothalamic gland is an endocrine gland responsible for stimulating the pituitary gland and regulating appetite. The front chunk of the pituitary gland struggles to secrete the hormo  Read More

There's a partial cure available for frontofacionasal dysostosis. The treatment totally depends on the type of abnormality you're suffering from: 1. Bone malfunctions: Workout, vitamin and nutrient supplements, and drugs are used to treat established osteoporosis. Exercise and supplementation are frequently recommended to help prevent bone malfunctions. Other than that, at times surgeries are also recommended if t  Read More

Gastroesophogeal reflux (GER) is the upward flow of stomach contents from the stomach into the esophagus ("swallowing tube"). While not required by its definition, these contents may continue from the esophagus into the pharynx (throat) and may be expelled from the mouth. GER differs from vomiting in that it is generally not associated with a violent ejection. Moreover, GER is generally a singular event in time whereas the vomiting process is  Read More

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by  Read More

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete en  Read More

Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas o  Read More

Group B strep facts Group B strep are bacteria found normally in the intestine, vagina, and rectal area in about 25% of all healthy women. Group B strep infections can affect neonates and adults. Most pregnant women who are colonized by the bacteria have no symptoms. The infection can be spread to infants before or during delivery. Signs and symptoms in babies may include fever, breathing  Read More

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

Helicobacter pylori (H. pylori) facts Helicobacter pylori (H. pylori) is a bacterium that causes chronic inflammation in the stomach and is a common cause of ulcers worldwide H. pylori causes chronic inflammation (gastritis) by invading the lining of the stomach and producing a cytotoxin termed Vacuolating cytotoxin A (Vac-A); these functions can lead to ulcer formation. Although many infected individuals hav  Read More

Herpangina facts Herpangina is a self-limited infection primarily caused by coxsackieviruses. Herpangina most often affects young children. Herpangina is associated with fever, sore throat, and blisters in the back of the mouth. Herpangina is diagnosed based on clinical symptoms alone. Treatment of herpangina is usually directed toward minimizing the discomfort associated with the mouth bl  Read More

Hiccupping is a symptom. It may sometimes be accompanied by a slight tightening sensation in your chest, abdomen or throat. When to see a doctor Make an appointment to see your doctor if your hiccups last more than 48 hours or if they are so severe that they cause problems with eating, sleeping or breathing.  Read More

Sprengel Deformity is a rare congenital disorder in which the shoulder blade is displaced upward. The elevated shoulder blade causes a lump in the back of the base of the neck and may limit movement of the arm on the affected side. This disorder typically appears at birth for no apparent reason although there have been cases in which the disorder was inherited as an autosomal dominant trait. Other skeletal and muscular abnormalities have been  Read More

Histiocytosis X, also known as Langerhans cell histiocytosis, is a condition caused by the proliferation of abnormal Langerhans cells. It can occur at any age but is most common in kids younger than 15. It is rare and occurs in 1 or 2 newborns in a million. Abnormal Langerhans cells are dendritic antigen-presenting cells with abnormal proliferation and decreased capacity for antigen presentation. Histiocytosis X is either reactive or neoplastic.  Read More

Holoprosencephaly is a neuroanatomical malformation of the forebrain or frontal lobe. Impaired signaling between the neural crest and neural ectoderm is the cause of the disorder. it occurs during the period of gastrulation, two or three weeks after conception. Incomplete midline cleavage of the forebrain and craniofacial midline defects are the primary clinical features. Many genetic defects have been attributed to the disease. Nongenetic causes  Read More

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by  Read More

Pediatric hydrocele is an abnormal accumulation of fluid in the scrotal sac between the layers of tunica vaginalis. It is either congenital or acquired. Treatment Surgery is the choice of treatment for hydroceles. The options are as follows: 1. Herniotomy Congenital hydroceles which do not resolve spontaneously require herniotomy. The procedure involves the ligation and excision of patent processus vaginalis. 2. Hydrocelectomy Hydrocelectomy is a  Read More

Landau Kleffner syndrome (LKS) is a childhood disorder characterized by the loss of comprehension and expression of verbal language (aphasia) in association with severely abnormal electroencephalic (EEG) findings that often result in seizures.  Read More

Infantile apnea is a disorder characterized by pauses in breathing during infancy. It is characterized by apnea, or cessation of breathing, for 20 seconds or more. These pauses may occur dozens of times per day and can last for several minutes. It is a potentially life-threatening condition that requires immediate medical attention. There is no known cure for infantile apnea, but there are certain medications that can he  Read More

The cleft palate repair is done surgically when the child is about 1 to 2 years old.  Read More

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori disease is considered the infantile form of the neuronal ceroid lipofuscinoses. The NCLs are characterized by abnormal accumulation of certain fatty,  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature. In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency a  Read More

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyper  Read More

Juvenile Retinoschisis is also known as Congenital X-Linked Retinoschisis or abbreviated to CXLRS. It is an early onset genetic retinal illness that is distinguished by splitting (schisis) of the retinal layers, notably in the fovea, peripheral retina, or both. 1. This childhood-onset illness, which is marked by vision impairment, affects almost exclusively males. The retina, a distinctive type of light-sensitive  Read More

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss of ambulation. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk, may fall frequently and may have trouble walking up and down stairs at 2-3 years of age; s  Read More

Kawasaki's disease facts Kawasaki's disease is a syndrome of unknown cause that mainly strikes young children. Signs of the disease include fever and redness of the eyes, hands, feet, mouth, and tongue. The disease can be treated with high doses of aspirin (salicylic acid) and gammaglobulin. Kawasaki's disease usually resolves on its own within a month or two. Some children with Kawasaki's  Read More

Keratosis planopilaris transgrediens of siemens is a genodermatosis characterized by hyperkeratosis. Initially, keratosis begins on the palm and soles and spreads to the dorsal aspects of hands, fingers, and feet as well as flexor aspects of wrists and heels. The skin manifestations set in by the age of 3 to 5 years. abnormal expression of structural proteins involved in the skin is the cause of the condition. Ris  Read More

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known  Read More

Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome have few noticeable signs, and the condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect on growth or appearance. Signs and symptoms of Klinefelter syndrome also vary by age. Babies Signs and symptoms may include: Weak muscles Slow  Read More

Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral). Physical findings at birth include unusually light skin color and silvery-gray hair. Abnormal findings associated with the central nervous system may include abnor  Read More

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss of ambulation. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk, may fall frequently and may have trouble walking up and down stairs at 2-3 years of age; s  Read More

Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit abnormally long, thin fingers and toes and/or deformed (  Read More

Different types of lung-related issues, from having holes to unusual enlargement caused due to obstruction of airways, is Lobar Emphysema Infantile. Cure/medications: Depending upon the seriousness of symptoms, treatments and drugs are as follows: 1. Beta-Agonists: This is a long-term therapy suggested for patients suffering from asthmatic symptoms due to lung Lobar syndrome. Inhalers to  Read More

Respiratory disorder in babies with the efficient intake of air in lungs but defected outlet causes inflation in lung lobes, is Lobar Tension. It gives birth to Lobar Tension Emphysema in Infancy. Diagnosis: Earlier detection or symptoms of the condition increasing with age are the signals to get the treatments to start at the earliest. Few such methods of detecting the disease are as fol  Read More

Mast cells pathologically grow in cutaneous tissue and extracutaneous organs such as bone marrow, liver, spleen, and lymph nodes in various forms of the condition known as localized infantile mastocytosis. 1. Pediatric-onset mastocytosis and adult-onset mastocytosis are the two main age-related patterns in which the disease manifests, and they may differ in terms of clinical symptoms and how the disease develops.  Read More

Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities of the he  Read More

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Sympt  Read More

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.  Read More

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More

Microcephaly is a condition where the head (circumference) is smaller than normal. Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue. Signs and symptoms of microcephaly may include a smaller than normal head circumference that usually remains smaller than normal as the child grows, d  Read More

Milk allergy symptoms, which differ from person to person, occur a few minutes to a few hours after you or your child drinks milk or eats milk products. Immediate signs and symptoms of milk allergy might include: Hives Wheezing Itching or tingling feeling around the lips or mouth Swelling of the lips, tongue or throat Coughing or shortness of breath Vomiting  Read More

An uncommon neurological condition known as Moebius syndrome causes many cranial nerves, most frequently the 6th (abducens) and 7th (facial) nerves, to become weak or paralysed (palsy). Sometimes other cranial nerves are impacted. The condition exists from birth (congenital). The person with Moebius syndrome is unable to pout, pucker the lips, lift the eyebrows, or close their eyelids if the 7th nerve is affected. The eye cann  Read More

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities. Associated craniofacial defects may vary greatly in range and severity from case to case.  Read More

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More

The skeleton is typically affected by the uncommon genetic metabolic condition known as morquio syndrome. The specific GAG that accumulates in the body during Morquio Syndrome is known as keratan sulfate. This lysosomal storage disorder is a form of the autosomal recessive birth condition. GAG accumulation in many body regions results in symptoms in numerous organ systems. Treatment 1. Th  Read More

I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays.This disorder belon  Read More

Multiple cartilaginous enchondroses are a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These may lead to bone deformities, limb discrepancy, and fractures. 1. The enchondromas mainly occur in the limbs, especially the bones of the hands and feet. During the growth period, they tend to develop at the ends of the bones,  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Nager Syndrome is a rare disorder that may or may not be genetically derived. Major symptoms may include underdevelopment of the cheek and jaw area of the face. Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with related hearing problems and cleft palate may also occur. There may be underdevelopment or absence of the thumb, shorten  Read More

Nance-Horan syndrome is a rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. Additional eye (ocular) abnormalities are also often present, such as unusual smallness of the front, clear portion of the eye through which light passes (microcornea) and involuntary, rapid, rhythmic eye move  Read More

Another term for Nasomaxillary is Binder’s syndrome. It is a hereditary abnormality that concerns the midfacial skeleton, involving underdeveloped nose and upper jaw. More casually known as dish-face deformity. It could be inherited as an autosomal recessive trait consisting of incomplete penetrance. Nasomaxillary hypoplasia is often left undiagnosed or ends up with the wrong diagnosis, which makes it harder  Read More

Neonatal Progeroid syndrome, otherwise termed as Wiedemann-Rautenstrauch, is a rare genetic condition denoted by an aged appearance at the time of birth. Symptoms involve the growth restriction specific to the uterus, feeding ordeals, varying craniofacial features, hypotonia (low muscle tone), developmental impediments and mild to extreme intellectual disabilities. Risk factors of Neonatal Progeroid Syndrome  Read More

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause  Read More

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene. All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormali  Read More

Pediatric hydrocele is an abnormal collection of fluid, in the scrotal sac in male children. A scrotal sac is a bag-like structure that contains testicles. Commonly hydroceles are asymptomatic. However, in severe cases, it may cause discomfort or pain. Pediatric hydroceles are either congenital or acquired. Congenital hydroceles are those caused by abnormal developments during the fetal stage of life. During the third week of pregnancy, a membran  Read More

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

Pigmented Dermatosis, Siemens-bloch type, otherwise also termed as Incontinentia Pigmenti (PI) is a rare X-linked dominant genodermatosis condition. It’s more common in males and normally considered lethal pre-birth. Significant loss of hair of the scalp and body (alopecia), dental abnormalities (smaller than usual teeth, lesser teeth), eye issues that can cause vision loss, and linted/pinted fingernails as well as toena  Read More

Postanesthetic apnea is a condition that can occur after surgery. People with this condition may have difficulty breathing and may need help from a ventilator. There is no cure for postanesthetic apnea, but it is generally a temporary condition that resolves on its own. Medications may be used to help people with this condition breathe more easily. There is no known cure for postanesthetic apnea. However, there ar  Read More

Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

A soft-tissue malignancy, in simple terms, is a type of cancer, while common in children, is comparatively rare in middle-aged adults (45+). It is said to be the result of translocation of primitive mesenchymal cells. This transformation occurs when parts of the DNA are swapped from one chromosome to another, and tends to occur at the time of a single cell splitting into two independent ones. Pulmonary Rhabdomyosarcoma  Read More

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii). Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (c  Read More

Reactive attachment disorder can start in infancy. There's little research on signs and symptoms of reactive attachment disorder beyond early childhood, and it remains uncertain whether it occurs in children older than 5 years. Signs and symptoms may include: Unexplained withdrawal, fear, sadness or irritability Sad and listless appearance Not seeking comfort or showing no response when comfort is giv  Read More

Sydenham chorea is a rare neurological disorder characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Additional symptoms may include muscle weakness and emotional or behavioral problems. Sydenham chorea most often affects children and adolescents. Sydenham chorea usually develops following Streptococcal infection and may occur as an isolated finding or as a major complication of acute rheumatic fe  Read More

Short stature, delayed puberty in men, small heads, seizures, learning problems, underdeveloped sex organs, susceptibility to infections, and/or short hair are some signs and symptoms of Ring chromosome 21 that may be present.Some persons exhibit traits and symptoms resembling those of others with Down syndrome. Ring chromosome 21 can be randomly acquired (by chance) during the development of egg or sperm cells or  Read More

Roberts Sc-phocomelia Syndrome is a rare autosomal recessive condition where the onset of prenatal growth is carried over into the postnatal period. It is identified with extreme malformations, craniofacial abnormalities, and impaired cognitive development, including cardiac and renal anomalies. A cause of this can be disruptions and changes of the gene situated on the shorter arm (p) of chromosome 8. Cure/medicati  Read More

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

Rubinstein-Taybi Syndrome is a genetic disorder characterized by shortened stature, mild to severe intellectual disabilities, peculiar facial features, broader thumbs and first toes, abnormalities of the eyes, kidney and heart complications, dental issues, and obesity. The life expectancy of affected children does not exceed 5 years of age. Mutations of certain genes in the DNA are the primary cause, making it a ge  Read More

Russell-Silver Syndrome is a genetic condition, classified under growth disorders that slow down and restrict development at the expected rate. It is prominent before and after birth. Babies born with this condition will weigh significantly less than healthy babies, and often fail to mature physically. In other words, they fail to thrive. Disproportionate head in relation to the rest of the body, low birth rate, as  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

Russel-silver dwarfism, also known as Russel-silver syndrome, is a developmental disease. As the name suggests, a person born with the disease grows dwarf, with an average height in adulthood being 3 feet. The baby is born with macrocephaly and an underdeveloped body by size. Other clinical features include unusually prominent forehead (frontal bossing), progressive limb length discrepancy, growth failure, and feeding difficul  Read More

Sandhoff disease is an exceedingly rare lysosomal storage condition. It induces nerve cell damage (neurodegeneration). This causes issues with thinking and movement. Sandhoff illness is caused by faulty HEXB gene mutations. Negative alterations in this gene result in lower levels of two enzymes in the cell's recycling centers (lysosomes). Certain fats (lipids) accumulate in enormous levels in nerve cells in the absence of thes  Read More

Scoliosis is an abnormal curve in the spine. There are several types of scoliosis based on the cause and age when the curve develops; the majority of patients have no known cause. The most common symptom of scoliosis is curvature of the spine. Scoliosis risk factors include age (9-15-year-olds), female sex, and family history. Diagnosis is done by the physical exam and by imaging techniques such as  Read More

Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities. The facial features include a broad square-shaped face, an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually prominent jaw (prognathism); eyebrows growing across the base of the nose (synophrys); a short full tipped nose and fl  Read More

Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities. The facial features include a broad square-shaped face, an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually prominent jaw (prognathism); eyebrows growing across the base of the nose (synophrys); a short full tipped nose and fl  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterized by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterised by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two ways: one is nonsyn  Read More

A full evaluation by a speech-language pathologist is required before deciding on the appropriate treatment option. There are several ways approved to treat children and adults who stammer. Because everyone's challenges and requirements are different, a strategy — or combination of ways — that works for one person might not always work as well for another. Treatment may not completely cure stuttering, b  Read More

Mild cases of syndactylic oxycephaly may not require treatment. If the baby's cranial sutures are open and the skull is malformed, the doctor may recommend a specially designed helmet to assist correct the head. In this case, the molded helmet can help your baby's brain development and adjust the shape of the skull.However, surgery is the main treatment for the majority of newborns. The type and timing of surgery are det  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is characterized by kinky or curly hair; poorly developed tooth enamel; and unusual thickness and/or denseness (sclerosis) of the top portion of the skull (calvaria) and/or the long bones (i.e., bones in the arms  Read More

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii). Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (c  Read More

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii). Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (c  Read More

Thrush and other yeast infections in children can be treated with medicated suppositories and prevented at the earliest by following certain precautions. 1. Antifungal drugs: Thrush is easily treated with an antifungal medicine such as nystatin (Mycostatin®), fluconazole (Diflucan®), or itraconazole (Sporanox®). They are available as a syrup or a pill. The antibiotic nystatin is often prescribed for children  Read More

TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex. Infection with any of these agents (i.e., Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex viruses) may cause a constellation of similar symptoms in affected newborns. These ma  Read More

Torsion dystonia has no known treatment. However, there are numerous medical techniques that can be used to alleviate the disease's symptoms. The treatment has to be patient-specific, based on all previous and current medical issues. The doctor who develops the treatment must be intimately familiar with the patient's health and develop a treatment plan that addresses all of the symptoms while focusing on the more chronic areas  Read More

The esophagus and the trachea are connected by a fistula called a tracheoesophageal fistula. The tube that joins the throat and the stomach is known as the esophagus. The trachea is the tube that joins the windpipe and lungs to the throat. The esophagus and trachea are two separate tubes in their natural state. Tracheoesophageal fistula is a birth defect that implies that you are born with the issue. It took place  Read More

A congenital abnormality known as tracheoesophageal fistula with or without esophageal atresia (EA/TEF) causes the esophagus to narrow or stop. The majority of neonates with esophageal atresia also have a condition known as a tracheoesophageal fistula, which is an improper connection between the esophagus and the windpipe. Here are the symptoms: 1. Infants with tracheoesophageal fistula with or without  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is characterized by kinky or curly hair; poorly developed tooth enamel; and unusual thickness and/or denseness (sclerosis) of the top portion of the skull (calvaria) and/or the long bones (i.e., bones in the arms  Read More

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shape  Read More

Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous s  Read More

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. Most affected individuals have no symptoms (asy  Read More

Urinary incontinence is the loss of bladder control. In children under age 3, it’s normal to not have full bladder control. As children get older, they become more able to control their bladder. When wetting happens in a child who is old enough to control his or her bladder, it’s known as enuresis. Enuresis can happen during the day or at night. Enuresis can be frustrating. But it’s important to be patient and remember that it’s not your  Read More

Urinary tract infections are a fairly common problem in childhood and may have either a benign course responding to simple antibiotic therapy or be associated with significant disruption in either the anatomy or function of a child's urinary system. This article will focus on UTIs affecting children, with an emphasis on those less than 2 years of age. Because of their more unique and complicated nature, neonatal (less than 28 days of age) UTIs  Read More

An uncommon genetic condition called vacterl association with hydrocephalus (VACTERL-H) or vater association with hydrocephalus affects numerous anatomical systems. The core characteristics of the disorder are sometimes not apparent in affected children until later in life. Cure or medication vacterl association with hydrocephalus 1. Treatment is made to fit each patient ’s individual results, it  Read More

At birth, vater association with hydrocephalus-affected children frequently have a number of congenital abnormalities. Congenital abnormalities and the associated symptoms can present differently in various affected people.This uncommon genetic condition called vacterl association with hydrocephalus (VACTERL-H) or vater association with hydrocephalus affects numerous anatomical systems. The core characteristics of  Read More

Treatment of vitelliform macular dystrophy A vieltfimorm macular dystrophy is a genetic form of macular degeneration. It is when the part of the eye called the macula is damaged. The physical cause of the breakdown of the retinal pigment epithelium. It starts with blurred central vision and gets worse with complete loss of vision. But the peripheral vision and ability of the eye to adjust to dark status are unaffec  Read More

Vulgaris type disorder of cornification is an inherited skin disorder in which dead skin cells accumulate on a thick dry scale, on your skin’s surface. It is also called fish skin disease. It is usually present at birth or starts showing signs in early childhood. One should be careful as sometimes the condition goes untreated because it is confused with dry skin.Some cases are often mild but might get severe  Read More

Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

Symptoms of the west syndromeWest syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia, and intellectual disability. The spasms that occur range from violent jackknife where the body bends in half or very mild twitching of the shoulder. They usually occur at an early age or can occur at an older age where they are called epileptic sp  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features include above-average birth and weight and increased growth after birth (postnatally), an usually large tongue (macroglossia), enlargement of certain internal organs (visceromegaly), and protrusion of  Read More

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open,  Read More