In-depth insights into various childhood syndromes and disorders.
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Acrofacial Dysostosis 1, Nager Type is a rare genetic condition, with currently more than 75 cases reported to date. Symptoms may vary but generally, infants born with the condition require assistance with feeding and possibly assistance with breathing, related to the specific unique physical features of the condition. The majority of cases of the syndrome […]
Acrofacial Dysostosis, Catania Type is a rare genetic syndrome that was first identified in 1993, as a new form of acrofacial dysostosis. Short stature and unique facial features are characteristic of the syndrome. Research is still ongoing into the exact causes of this orphan syndrome. This syndrome is also known as:AFD; Catania Type As yet […]
Acromelic Frontonasal Dysostosis is a rare disease and a rare subtype of frontal dysostosis syndrome, which also presents with limb abnormalities and central nervous system malformations in affected individuals. It occurs in less than 1 in 1 million live births. Abnormalities affecting the digits and unique facial features are common with the syndrome. This syndrome […]
Adams-Oliver syndrome is a rare genetic condition that affects the limbs and scalp of individuals affected, as well as their skin development. Symptoms of the syndrome may vary widely between individuals, ranging from mild to severe. However, it is most commonly present at birth. Its exact prevalence is currently unknown. This syndrome is also known […]
Alagille syndrome is a genetic condition which affects mainly the liver. Individuals with the syndrome have less than the normal number of bile ducts in their liver. This rare disease also affects the heart, and other parts of the body too. Symptoms are usually first noticed in infancy. The syndrome occurs in approximately 1 in […]
Allan-Herndon-Dudley syndrome is a rare genetic inherited condition that affects mainly males, due to the way in which it is inherited. It primarily affects brain development and in turn intellectual ability. Limited to zero speech development is also a defining feature of this syndrome. This syndrome is also known as:AHDS Allan-herndon Syndrome; Mental Retardation And […]
Alpha-Thalassemia/Impaired intellectual development syndrome, X-linked is a rare genetic condition that affects mainly males. There are more than 200 reported cases to date. The main features of the syndrome include severe intellectual disability, developmental delay, and unique facial features. This syndrome is also known as:Alpha-thalassemia/mental Retardation Syndrome; Nondeletion Type ATR-X Syndrome ATR; Nondeletion Type ATR2 […]
Alternating Hemiplegia of Childhood is a rare neurological, genetic condition that generally appears when an infant reaches 18 months of age. It was first identified in 1971. The syndrome is rare, occurring in less than 1 in 1 million live births. The main symptom of the syndrome is periodic paralysis. This syndrome is also known […]
Amyotrophy, Hereditary Neuralgic is a rare genetic condition that generally presents with symptoms when an affected individual reaches early adulthood. The condition is currently believed to affect 1/30-50, 000. Severe arm and shoulder pain, which can last anywhere from a few minutes to several days, is the main feature of this rare disease. This syndrome […]