Adams Oliver syndrome [Supplementary Concept]
A rare hereditary congenital disorder with autosomal dominant inheritance. It is characterized by the combination of aplasia cutis congenita (ectodermal dysplasia) of the scalp vertex and terminal transverse limb defects such as, missing limbs, SYNDACTYLY, BRACHYDACTYLY, or oligodactyly. Vascular anomalies including cutis marmorata telangiectatica congenita, PULMONARY HYPERTENSION, PORTAL HYPERTENSION and retinal hypervascularization are frequently observed. CONGENITAL HEART DEFECTS occur in 20% of patients. Mutations in the ARHGAP31 gene have been identified. OMIM: 100300
Date introduced: June 25, 2010
MeSH Unique ID: C538225
Heading Mapped to:
Entry Terms:
- Scalp and head syndrome
- Scalp defects with ectrodactyly
- Congenital Scalp Defects With Distal Limb Reduction Anomalies
- Absence defect of limbs, scalp, and skull
- Adams-Oliver syndrome
- Familial aplasia cutis congenita of the scalp
- Aplasia Cutis Congenita With Terminal Transverse Limb Defects
- Adams-Oliver syndrome 1
- Congenital defect of skull and scalp
- Scalp defect, congenital
- Aplasia cutis of the scalp