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Barber-Say syndrome

Disease definition

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

ORPHA:1231

  • Synonym(s):
    • Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 209885
  • UMLS: C1319466
  • MeSH: C537908
  • GARD: 819
  • MedDRA: -

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