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Adams Oliver syndrome MeSH Supplementary Concept Data 2025


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 Preferred
Scalp defect, congenital Related
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