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scalp-ear-nipple syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
Uniprot Description A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families.
Mondo Term and Equivalent IDs
MONDO:0008404:  scalp-ear-nipple syndrome
DOID:0111550: 
GARD:0000159: 
MESH:C536623: 
Orphanet:2036: 
SCTID:721888002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)