The following Conditions are related to He

Select a specific condition below to view its details.

  • Apert syndrome

    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

  • 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

  • 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

  • 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

    Cure or Medication for campomelic dysplasia Campomelic dysplasia has no known treatment; alternatively, it is treated or prevented. The structural problems may potentially be corrected by surgical techniques. The following are the treatments for Campomelic dysplasia. 1. PEEP: Positive end-expiratory pressure (PEEP), a mechanical breathing aid, may help affected people with respiratory issues.  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)

    The most common type of pediatric cancer is childhood Acute Lymphoblastic Leukemia (ALL). It is a kind of blood and bone marrow cancer that spreads swiftly and can be lethal within a few months if left untreated.Treatment1. Children experiencing acute lymphoblastic leukemia might receive a variety of treatments (ALL). Some therapies are mainstream (already used), while others are being investigated in clinical stud  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

    Multiple bodily systems are impacted by the illness known as Coffin-Siris syndrome. Developmental disability, anomalies of the fifth (pinky) fingers or toes, and distinctive facial features are trademarks of this disorder, despite the fact that there are numerous diverse signs and symptoms. 1. The majority of those affected have mild to severe intellectual disabilities or delayed speech and motor skill development  Read More

  • Cradle cap

    na  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

    Craniostenosis, Crouzon type is a very uncommon hereditary condition. It is a type of craniosynostosis, a condition in which the fibrous joints (sutures) between some of the skull's bones fuse prematurely. The sutures permit the cranium to develop and enlarge in an infant. These bones eventually come together to form the skull. In Crouzon syndrome, the sutures prematurely fuse, potentially changing the shape and development of  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

    Risk factors for crouzon craniofacial dysostosis: 1. One of the FGFR genes, usually FGFR2, changes (mutations) lead to Crouzon syndrome. The instructions for making proteins, which are essential to numerous bodily processes, are provided by genes. 2. A gene mutation might result in the production of a protein that is defective, ineffective, or nonexistent. This can have an impact on a variety of body organ s  Read More

  • Cystinuria

    The major goal of cystinuria treatment is to lower the cystine concentration in the urine. Consuming big amounts of liquids both during the day and at night keeps the urine volume high and lowers the cystine content in the urine. Turning the urine more alkaline allows cystine to break down more easily and may help avoid the formation of stones. 1. Medication Potassium citrate and acetazolamide are two medications t  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

    Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. 1. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. 2. Most affected individuals have an  Read More

  • Detecting hearing loss in children

    Determining hearing loss in children facts Children can be tested for hearing loss at any age. There are several risk factors associated with hearing loss, including ear infections, prematurity, diseases, and syndromes. Early identification of hearing loss will permit effective intervention, allowing for speech, language and cognitive development that are on target with a child's peers. The ABR and  Read More

  • Down syndrome

    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

  • Dup(5p) syndrome

    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

    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

    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

  • 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

  • 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

  • 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

  • Frontofacionasal dysostosis

    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

  • 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

    Glossoptosis micrognathia and cleft palate are known as the Pierre Robin sequence. 1. No medications are available that improve the situation. 2. The conditions are managed through surgical interventions. Surgery is performed only to solve the functional problems that a patient may have. Surgical treatments may be indicated for PRS patients with more severe clinical conditions, especially for people with air  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

    Risk factors of Hartnup disease: 1. Hartnup disease is caused by mutations in the SLC6A19 gene. These mutations are inherited in an autosomal recessive manner. 2. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. 3. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same  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

  • 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

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

  • Infantile spinal muscular atrophy

    Infantile spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons of the spinal cord. It is the most common form of SMA, and it usually appears at birth or during infancy. The first signs are often poor suckling reflexes and a weak cry, which may be followed by muscle weakness and stiffness in the arms and legs. As the disease progresses, it typically causes permanent disability. There a  Read More

  • Infantile spinal muscular atrophy type i

    Infantile spinal muscular atrophy type I (SMA) is a genetic disorder that results in progressive muscle weakness in infants and children, typically before the age of 2. This disease is caused by a mutation in the SMN1 gene, which produces a protein called survival motor neuron. This protein is essential for normal nerve cell function. 1. The first signs of SMA typically begin between 6 and 18 months of age and inc  Read More

  • Jarcho levin syndrome

    Jarcho-Levin syndrome is not currently curable. However, there are a few different medications that may help to decrease the symptoms of this disease. 1. Irinotecan: This is the most common drug used for treating jarcho levin syndrome, and it works by inhibiting the growth of cancer cells in the body. It's usually administered intravenously once every two weeks to three months, depending on how quickly your tumor  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

  • Laband syndrome

    A rare genetic disorder with an uneven mouth, gums, teeth, face and head that occurs due to abnormal gene copy from parents is Laband Syndrome. The common problem related to Laband Syndrome is disabled bone formation everywhere in the body. It gives rise to difficulties in standing, writing, and other daily routine tasks. Cure/medications: After so much research and experiments, it is difficult  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

  • Male turner syndrome

    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

  • Mannosidosis

    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 (jaw-winking) syndrome

    Marcus gunn (jaw-winking) syndrome is one of the congenital cranial dysinnervation disorders (CCDD) and those with this condition show varying degrees of blepharoptosis in the primary, resting position. It is connected to synkinetic movements of the upper eyelid that occur while the jaw is being masticated. 1. Congenital blepharoptosis is associated with Marcus Gunn jaw-winking syndrome (MGJWS). Dr. Robert Marcus  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

    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

  • 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

    An autoimmune disorder called moravcsik-marinesco-sjogren syndrome makes your immune system malfunction and attack healthy cells instead of foreign bacteria or viruses. Your white blood cells target the glands in charge of producing moisture instead of protecting you from pathogens as they would normally do. When that occurs, they are unable to produce saliva or tears, which causes your mouth, eyes, and other body parts to dry  Read More

  • Morquio disease

    Morquio disease is a rare inherited metabolic disorder in which the body has trouble processing specific kinds of sugar molecules (glycosaminoglycans). This condition, also known as mucopolysaccharidosis type IV (MPS IV), manifests as a skeletal disorder with aberrant spine curvature, a short neck, knock knees, and hip issues. Children who are affected by the syndrome may exhibit an expanded head and recognisable facial features. Infants with  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

    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

  • 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

  • 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

    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

  • Niikawakuroki syndrome

    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 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

  • Pediatric hydrocele

    A tracheostomy tube is inserted in the trachea, which effectively bypasses the obstruction in the oral pharynx and hypopharynx.  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

  • 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

  • Radial aplasia-thrombocytopenia syndrome

    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

    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

    Rheumatic chorea, also known as Sydenham chorea, is an autoimmune disorder. The immune system in the affected person misrecognized basal ganglia cells as hemolytic streptococci. The basal ganglia is a part of the brain that controls and coordinates body movements. Infection with group A and B hemolytic streptococcus strains triggers a hypersensitive humoral response mediated by antibodies against antigens on basal ganglia cell  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

    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

  • Rubinstein syndrome

    Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally  Read More

  • Rubinstein taybi syndrome

    Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally  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

  • 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

    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

  • Split-hand and foot deformity

    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

  • 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

    Risk factors for TDO syndrome: 1. TDO syndrome is an autosomal dominant genetic illness that is part of a group of diseases known as ectodermal dysplasias. 2. Ectodermal dysplasias are conditions that affect the hair, teeth, nails, and/or skin. 3. Tricho-dento-osseous syndrome could be visible from birth due to the presence of kinky curly hair in all affected neonates with hair. 4. TDO syndrome is  Read More

  • Thrombocytopenia absent radius syndrome

    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 radii syndrome

    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

    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

  • 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

  • Treacher collins syndrome

    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

  • 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

  • Tyrosinemia, hereditary

    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

  • 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

  • Vacterl association with hydrocephalus

    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

  • Vater association with hydrocephalus

    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

  • 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

  • Werdnig hoffman disease

    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

  • West syndrome

    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

  • 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