Orphanet: Scalp ear nipple syndrome

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Scalp-ear-nipple syndrome

Disease definition

A rare syndrome 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. Renal and urinary tract abnormalities, as well as cataract, have also been observed.


Classification level: Disorder
  • Synonym(s):
    • Finlay-Marks syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 181270
  • UMLS: C1867020
  • MeSH: C536623
  • GARD: 159
  • MedDRA: -
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