The following Conditions are related to P

Select a specific condition below to view its details.

  • Apert syndrome

    Apert syndrome is a genetic condition that is present from birth. It involves the fusion of certain bones in the skull, which can cause problems with brain development and health. 1. There is no established or proven cure for Apert syndrome; however, there are treatments available to manage the symptoms. 2. In some cases, surgery can be used to correct the bones and facial deformities associated with the con  Read More

  • Aplasia cutis congenita

    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

  • Auditory processing disorder in children

    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 congenital myopathy

    Batten turner congenital myopathy is a rare genetic disorder that is passed down through families. The exact cause of the condition is unknown, but it is thought to be associated with problems in the genes that control muscle development and function. There are a number of risk factors that have been identified as being associated with batten turner congenital myopathy. These include: 1. Having a family history of  Read More

  • Batten turner syndrome

    Batten Turner Syndrome is a rare genetic disorder that is characterized by progressive vision loss and neurological problems. The exact cause of the condition is unknown, but it is believed to be caused by a mutation in a gene called CLN3. Batten Turner Syndrome typically begins in childhood, and affects both males and females equally. There is currently no known cure for the condition, but treatments are available to help man  Read More

  • Batten-spielmeyer-vogt's disease

    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-conradi syndrome

    Bowen-Conradi syndrome, a highly uncommon hereditary condition, is marked by abnormalities of the head and face, developmental delays before birth, and infantile failure to thrive. Small head, prominent nose, small chin, minor joint limitation, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in afflicted males are some other physical anomalies. Kidney, brain, and/or other problems may  Read More

  • Brachmann-de lange syndrome

    Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental  Read More

  • Calcaneal valgus

    Calcaneus valgus is a neonatal disorder caused by the intrauterine position. It is usually one-sided. The forefoot is dorsiflexed and abducted, whereas the heel is valgus. The ankle has restricted motion. As a result of the foot position, an external tibial torsion may arise, as well as an externally rotated tibia in some circumstances. Although the real cause of calcaneovalgus foot is unknown, one suggestion is that it is cau  Read More

  • Campomelic dysplasia

    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

    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

  • Charcot-marie-tooth roussy levy disease

    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

  • Child nevus

    A red birthmark known as a child nevus is named for its pigmentation. The cluster of blood vessels near the skin's surface is what gives the skin its red tint. Young toddlers and newborns are the most common demographic for these birthmarks. Child nevus does not usually manifest itself at birth. The mark can also develop in infants as young as a few weeks old. By the time a youngster reaches the age of 10, they us  Read More

  • Childhood acute lymphoblastic leukemia (all)

    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

  • Childhood cyclic vomiting

    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

  • Childhood muscular dystrophy

    The signs and symptoms of childhood muscular dystrophy arise at an early age. Girls can have the gene and have modest symptoms, but boys are considerably more likely to have it. 1. Frequent falls 2. Having trouble maintaining a position such as getting up from a lying or sitting. 3. A waddling walk 4. Difficulty running and jumping 5. Enlarged calf muscles Once more, they might  Read More

  • Childhood obesity

    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

    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

  • Cradle cap

    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

  • Craniofacial syndrome

    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

  • Craniostenosis, crouzon type

    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

  • Craniosynostosis-radial aplasia syndrome

    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 craniofacial dysostosis

    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

    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

  • Cysts of the renal medulla, congenital

    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

  • Deafness-dwarfism-retinal atrophy

    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

  • Detecting hearing loss in children

    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

  • Down syndrome

    Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. Each patient is unique and there can be great variability in the severity of symptoms.  Read More

  • Drifting spleen

    Congenital wandering spleen is a very rare, randomly distributed birth defect characterized by the absence or weakness of one or more of the ligaments that hold the spleen in its normal position in the upper left abdomen. The disorder is not genetic in origin. Instead of ligaments, the spleen is attached by a stalk-like tissue supplied with blood vessels (vascular pedicle). If the pedicle is twisted in the course of the movement of the spleen,  Read More

  • Dyskeratosis congenita

    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, scoggins type

    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

    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 epiphysialis punctata

    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

    Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes (syndactyly). This may give the hands and/or feet a claw-like appearance. There are many types and combinations of deformities that appear in split hand/split foot malformation. Th  Read More

  • Encephalitis periaxialis diffusa

    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

  • Epilepsy and multiple subpial transection (mst)

    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

  • Epilepsy and temporal lobe resection

    temporal lobe resection is a treatment not a disorder  Read More

  • Epilepsy, myoclonic progressive familial

    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

  • Epilepsy: extratemporal cortical resection

    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

  • Epilepsy: vagus nerve stimulation (vns)

    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

  • Erb's paralysis

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Escobar syndrome

    Depending on how severe the spinal deformities and webbing are, therapy is supportive. Here are some options for treating escobar syndrome: 1. Since scoliosis typically appears before the age of five in most individuals, orthopedic specialists must be consulted as soon as a diagnosis is obtained. 2. Plastic surgery in the regions of the webbing may be beneficial for patients with Escobar syndrome. Sub  Read More

  • Faciodigitogenital syndrome

    Since there is currently no permanent treatment for Facio Digito Genital syndrome, care is offered to enhance quality of life. A specialized team of healthcare professionals is needed to give a synchronized treatment for the patient's distinctive anomalies and associated symptoms: 1. Therapy of strabismus is used for disorders where the eyes are positioned erratically, impairing vision. In order to restore normal v  Read More

  • Febrile seizures

    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

  • Fifth digit syndrome

    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

    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

  • Froelich's syndrome

    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

  • Gastroesophageal reflux (ger and gerd) in infants and children

    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

  • Gilford syndrome

    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

  • Glossoptosis micrognathia and cleft palate

    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

  • Greenfield disease

    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 infection

    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 syndrome

    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

    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

  • Hiccups

    Hiccup facts A hiccup is a sudden, involuntary contraction (spasm) of the diaphragm muscle. When the muscle spasms, the vocal cords snap shut, producing the hiccup sound. Common causes of hiccups include eating too quickly, eating or drinking too much, diseases that irritate the nerves that control the diaphragm, abdominal surgery, strokes or brain tumors, noxious fumes, and certain medications. Most cases of  Read More

  • High scapula

    The high scapula, also known as Scapula Elevata, or Sprengel Deformity, is a rare congenital disorder. There isn’t any cure for this disease; however, treatments can help. 1. Surgery is the standard treatment for Sprengel deformity. However, many affected individuals will not require surgical intervention because they have a mild form of the disorder with minimal restriction of movement. 2  Read More

  • Histiocytosis x

    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

    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

  • Hutchinson-gilford progeria syndrome (hgps)

    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

  • Hydrocele

    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

  • Infantile acquired aphasia

    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

    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

  • Infantile myoclonic encephalopathy

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Infantile neuronal ceroid lipofuscinosis

    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

  • Infantile spinal muscular atrophy

    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

  • Infantile spinal muscular atrophy type i

    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

    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

    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

    X-linked juvenile retinoschisis (RS) is a genetic disorder affecting males. Major symptoms include poor eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images. It is composed of supportive and protective structures, nervous system components and layers including "rods" and "cones." RS is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts of the f  Read More

  • Kawasaki's disease

    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 palmoplantaris transgradiens of siemens

    Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusually red (erythema) and become abnormally thick and scaly (symmetrical cornification). Affected children may also exhibit various abnormalities of the nails; excessive sweating (hyperhidrosis) associa  Read More

  • Kid syndrome

    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

  • Klinefelter syndrome

    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

  • Kramer syndrome

    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

    Kugelberg-Welander syndrome, also known as spinal muscular atrophy type 3, is a milder form of spinal muscular atrophy (SMA). SMA causes the degeneration of horn cells in the spinal cord and the destruction of associated alpha neurons. Type 3 disproportionately affects legs over arms. While the patient may be able to walk, he/she may require a wheelchair as the disease progresses. The common age of onset is three years. In rar  Read More

  • Lobar emphysema infantile

    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

  • Lobar tension emphysema in infancy

    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

  • Localized infantile mastocytosis

    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

  • Marcus gunn (jaw-winking) syndrome

    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-myopathy

    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

    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

    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

  • Mobius syndrome

    Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 7th nerve is aff  Read More

  • Monosomy 18p syndrome

    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

  • Moravcsik-marinesco-sjogren syndrome

    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

  • Morquio disease

    Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals  Read More

  • Morquio syndrome

    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

  • Mucolipidosis ii

    An uncommon inherited metabolic illness known as mucolipidosis II also called I-cell disease, causes mental impairment, coarse facial features, and skeletal deformities. I-cell disease symptoms are comparable to Hurler syndrome symptoms but are more severe. This disorder's symptoms, which can include numerous deformities of the skull and face as well as growth delays, often first become apparent in infancy. 1. Thi  Read More

  • Multiple cartilaginous enchondroses

    Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long  Read More

  • Multiple exostoses syndrome

    Multiple exostoses syndrome, which is benign bone tumors with cartilage caps that grow outward from the metaphyses of long bones, is the hallmark of multiple hereditary osteochondromas (HMO), formerly known as hereditary multiple exostoses (HME). Reduced skeletal growth, bone deformities, reduced joint motion, short stature, early osteoarthritis, and compression of peripheral nerves have all been linked to osteochondromas. Nea  Read More

  • Nager acrofacial dysostosis syndrome

    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

    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

  • Nasomaxillary hypoplasia

    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

    Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy). It is anticipated that most individuals with WRS have decreased life expectancy. Few individuals have  Read More

  • Norrie syndrome

    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

  • Paramyotonia congenita

    Paramyotonia congenita is a rare muscular disorder inherited as an autosomal dominant trait. This nonprogressive disorder is characterized by a condition in which the muscles do not relax after contracting (myotonia). Symptoms can be triggered by exposure to the cold. There are also intermittent periods of a type of paralysis in which there is no muscle tone (flaccid paresis). This condition does not necessarily coincide with exposure to cold  Read More

  • Pediatric hydrocele

    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 anomalad

    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 complex

    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

    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

    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

    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

    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

  • Pulmonary rhabdomyosarcoma

    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

  • Reactive attachment disorder

    Reactive Attachment Disorder arises when a child is not subjected to healthy emotional bonds at an early age. Experiencing emotional neglect and any kind of abuse inflicted by parental figures or caretakers result in avoidance of touch and any form of physical affection. Because the child has been through abuse or ignorance, even positive touch registers as a threat in their mind. You can notice them flinching, lau  Read More

  • Rheumatic chorea

    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

  • Ring 21 chromosome

    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

    Phocomelia syndrome (PS) is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia.  Read More

  • Robin sequence

    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

    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 (rss)

    Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype findings vary both in incidence rate and severity from one individual to another. Besides prenatal and postnatal growth retardation, the most common characteristics are normal head circumference (app  Read More

  • Russell-silver dwarfism

    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

    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

    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 chromosome region

    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

  • Sms -- smith magenis syndrome

    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

  • Split hand and split foot malformation

    Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes (syndactyly). This may give the hands and/or feet a claw-like appearance. There are many types and combinations of deformities that appear in split hand/split foot malformation. Th  Read More

  • Split-hand and foot deformity

    Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes (syndactyly). This may give the hands and/or feet a claw-like appearance. There are many types and combinations of deformities that appear in split hand/split foot malformation. Th  Read More

  • Stuttering

    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

  • Surdicardiac syndrome

    Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in epis  Read More

  • Syndactylic oxycephaly

    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

  • Tcof1

    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

  • Tdo syndrome

    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

  • Thrush and other yeast infections in children

    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

    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

    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

  • Tracheoesophageal fistula

    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

  • Tracheoesophageal fistula with or without esophageal atresia

    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

  • Tricho dento osseous syndrome

    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

    Trichorhinophalangeal Syndrome Type III (TRPS3), is an extremely rare genetic multisystem condition. Fine, thin, light-colored hair, odd facial features, malformed fingers and/or toes, and numerous abnormalities of the "growing ends" of the bones (skeletal dysplasia), particularly in the hands and feet, are all traits of Trichorhinophalangeal Syndrome Type III. A pear-shaped or rounded (bulbous) nose, an excessivel  Read More

  • Unconjugated benign bilirubinemia

    Normal liver function tests, high bilirubin levels, and genetic testing are all necessary for the diagnosis of unconjugated benign bilirubinemia to confirm the condition. The use of drugs to treat this syndrome is not justified because of how benign and unimportant it is. When using medications that are conjugated by the liver, such as acetaminophen and irinotecan, there is an increased risk of side effects and tox  Read More

  • Urinary tract infections (utis) in children

    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

  • Vitelliform macular dystrophy, early-ons...

    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

    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

    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

  • West syndrome

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Williams-beuren syndrome

    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