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scalp-ear-nipple syndrome
Genetics:
- due to mutations in KCTD1
- penetrance is high, although there is substantial variable expressivity within families
Clinical manifestations:
- aplasia cutis congenita of the scalp
- breast anomalies ranging from hypothelia or athelia to amastia
- minor anomalies of the external ears
- less frequently
- nail dystrophy
- dental anomalies
- cutaneous syndactyly of the digits
- renal malformations
General
genetic syndrome (multisystem disorder)
References
- UniProt :accession Q719H9
- OMIM :accession 181270