Adams-Oliver syndrome is a rare disease consisting of the combination of aplasia cutis congenita of the vertex of the scalp and transverse defects at the terminal level of the extremities (e.g. amputations, syndactyly, brachydactyly or oligodactyly). Also associated with this entity is the presence of cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization. Likewise, congenital heart malformations also recur in approximately 20% of patients.
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