Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by the combination of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects. Aplasia cutis congenita refers to localized areas of absent skin, most commonly on the vertex of the scalp, which may extend to involve the underlying bone (skull defect). The limb defects are highly variable and can range from mild findings such as short or absent distal phalanges and nail abnormalities to more severe truncation defects of the hands and feet. The condition is present at birth, and the severity of features can vary considerably even within the same family. In addition to the hallmark scalp and limb findings, Adams-Oliver syndrome can affect other body systems. Cardiovascular malformations, including congenital heart defects such as ventricular septal defects, tetralogy of Fallot, and other structural anomalies, occur in a significant proportion of affected individuals. Cutis marmorata telangiectatica congenita (CMTC), a vascular skin condition causing a marbled appearance of the skin, is also frequently observed. Some patients may develop pulmonary hypertension, which can be a serious complication. Less commonly, central nervous system abnormalities, including developmental delay and structural brain malformations, have been reported. Adams-Oliver syndrome is genetically heterogeneous. Both autosomal dominant and autosomal recessive forms have been identified. Autosomal dominant forms are associated with pathogenic variants in genes such as ARHGAP31, DLL4, NOTCH1, and RBPJ, while autosomal recessive forms are linked to DOCK6 and EOGT. Treatment is supportive and symptom-based. Scalp defects may require wound care and sometimes surgical intervention, including skin grafting or bone reconstruction. Limb anomalies may benefit from orthopedic management or prosthetics. Cardiac defects and pulmonary hypertension require appropriate medical or surgical management. Regular monitoring by a multidisciplinary team including dermatology, cardiology, orthopedics, and genetics is recommended.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Adams-Oliver syndrome