What is Adams-Oliver Syndrome?

In this article we will briefly discuss about What is Adams-Oliver Syndrome? So let’s get started.

Adams-Oliver Syndrome

It is a rare genetic disease of autosomal dominant or autosomal recessive type. It is caused due to mutation of ARHGAP31, DLL4, NOTCH1, RBPJ, DOCK6 and EOGT gene, when the mutation occurs in ARHGAP31, DLL4, NOTCH1 and RBPJ geneit is of autosomal dominant type while in case of DOCK6 and EOGT gene it is of autosomal recessive type. It is characterised by absence of skin on the scalp i.e aplasia cutis congenita and transverse limb defects like short or missing digits i.e brachydactyly or oligodactyly or fused digits i.e syndactyly of upper and lower extremities other manifestation includes mottled skin appearance i.e cutis marmorata, telangiectatica congenita along with these vascular abnormalities are also present like hypoplastic aortic arch, absent portal vein, portal sclerosis, arteriovenous malformations etc.

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.