Adams-Oliver syndrome (Encyclopedia of Genetic Disorders)
Adams-Oliver syndrome (AOS) is a condition involving the combination of congenital scalp defects (called aplasia cutis congenita) and a specific type of limb defect.
Adams-Oliver syndrome is a genetic condition characterized by aplasia cutis congenita, most commonly of the scalp and skull, and terminal transverse limb defects. Congenital heart disease has also been reported in individuals with this condition. The exact cause of the condition is not well-understood. There is extreme variability in the severity of problems between families with AOS.
There have been both familial and non-familial cases of Adams-Oliver syndrome reported. The majority of genetic cases have been inherited in an autosomal dominant manner, but autosomal recessive and sporadic inheritance have also been reported. A difference in the presentation of AOS in the dominant versus recessive form has not been documented.
Autosomal dominant inheritance means that only one abnormal gene copy is required for the disease to occur. For persons with a copy of the gene, the risk of passing it to their offspring is one in two...
(The entire section is 1315 words.)
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