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Focal facial dermal dysplasia type II

Disease definition

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.

ORPHA:398173

Classification level: Subtype of disorder
  • Synonym(s):
    • FFDD type II
    • FFDD2
    • Focal facial dermal dysplasia 2, Brauer-Setleis type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q82.8
  • OMIM: 614973
  • UMLS: C1744559
  • MeSH: -
  • GARD: -
  • MedDRA: -
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