MeSH Browser

MeSH Supplementary: Adams Oliver syndrome
Unique ID: C538225
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538225
Entry Term(s): Absence defect of limbs, scalp, and skull; Adams-Oliver syndrome; Adams-Oliver syndrome 1; Aplasia Cutis Congenita With Terminal Transverse Limb Defects; Aplasia cutis of the scalp; Congenital Scalp Defects With Distal Limb Reduction Anomalies; Congenital defect of skull and scalp; Familial aplasia cutis congenita of the scalp; Scalp and head syndrome; Scalp defect, congenital; Scalp defects with ectrodactyly
Registry Numbers: 0
Heading Mapped to: *Ectodermal Dysplasia; Scalp Dermatoses / congenital; *Limb Deformities, Congenital
Frequency: 87
Note: 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 of Entry: 2010/06/25
Revision Date: 2015/08/17

Adams Oliver syndrome MeSH Supplementary Concept Data 2024