Adams-Oliver syndrome and differential diagnosis [17 genes]

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.

Estimated at 1 / 225,000 individuals.

Recommended service when this entity is suspected since the panel includes the genes related to Adams-Oliver and those of entities specific to its differential diagnosis.

The benefits of a genetic diagnosis in this context can range from family genetic counseling to early detection of associated comorbidities.

Clinically indicated for moderate suspicion of the disease.