In-depth insights into various childhood syndromes and disorders.
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DYRK1A Mutation is a rare genetic condition with symptoms that affect multiple parts of the body. Severe intellectual disability is a defining symptom of the syndrome. It also presents with unique facial features. This syndrome is also known as:Intellectual disability, DYRK1A mutation; Intellectual disability, DYRK1A mutations; MRD7 Mutations in the DYRK1A gene are responsible for […]
Ectodermal Dysplasia is a diverse group of genetic disorders, thought to number over 180 types. These congenital disorders are characterized by abnormalities in two or more ectodermal structures such as the hair, nails, teeth, or sweat glands; but without any other systemic findings. Syndrome Synonyms:Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine Syndrome; CST Syndrome ;Ectodermal Dysplasia 1, Hypohidrotic/hair/tooth […]
Ehlers-Danlos syndrome, Musculocontractural Type 1, also known as adducted thumb clubfoot syndrome, a rare disease is an inherited, connective tissue disorder. It affects multiple parts of the body, including the face, internal organs, and developmental delay of an individual. Syndrome Synonyms:Adducted thumb, clubfoot syndrome; Adducted Thumb-clubfoot Syndrome; ATCS Adducted Thumb, Clubfoot, and Progressive Joint and […]
Ehlers-Danlos syndrome is a rare inherited connective tissue disorder, widely considered to be the most severe form of Ehlers-Danos. It affects various parts of the body, particularly the vascular system. Syndrome Synonyms:EDS IV; EDS4 Ehlers-Danlos syndrome-vascular type; Ehlers-Danlos Syndrome Arterial Type; Ehlers-Danlos Syndrome Ecchymotic Type; Ehlers-Danlos Syndrome Sack-Barabas Type; Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant; […]
Emanuel syndrome is a rare chromosomal condition, believed to have been diagnosed in more than 100 people to date. Some of its symptoms may be life-threatening in infancy. Severe to profound intellectual disability is one of the most prominent symptoms of the syndrome. Syndrome Synonyms:Supernumerary Der(22)t(11;22) Syndrome The syndrome is caused by the extra genetic […]
Fabry Disease syndrome occurs mainly in males and is the result of mutations in the genes that produce the enzyme alpha-galactosidase A. The disease is considered a multi-system, progressive disorder and a lysosomal storage disease. The syndrome is the result of a defective GLA gene, responsible for producing the enzyme alpha-galactosidase A. This enzyme is […]
Feingold syndrome is a rare genetic syndrome that affects multiple parts of the body. There are two types of the condition: Type 1 and Type 2, each with their own genetic cause. Type 1 is the more common form of the syndrome. Syndrome Synonyms:Brachydactyly with Short Stature and Microcephaly; Digital Anomalies with Short Palpebral Fissures […]
Fetal Alcohol syndrome is caused when a fetus is exposed to alcohol during the pregnancy. It causes damage to both growth and brain development. Characteristics of the syndrome include distinct and unique facial features, a short stature, low weight at birth, and continued low growth, as well as issues with coordination, learning, and development. The […]
Fetal Valproate Syndrome is a condition that can develop when an unborn baby is exposed to valproic acid or sodium valproate in the first trimester. Sodium valproate is used as a common medication for epilepsy, migraine, and bipolar disorder. Not all babies exposed are affected by the syndrome, but exposure increases the risk. Exposure to […]