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

More general terms

• genetic syndrome (multisystem disorder)