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Focal facial dermal dysplasia type III

Disease definition

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

ORPHA:1807

  • Synonym(s):
    • FFDD type III
    • FFDD3
    • Focal facial dermal dysplasia 3, Setleis type
    • Setleis syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q82.8
  • OMIM: 227260
  • UMLS: C1744559
  • MeSH: C536385
  • GARD: 121
  • MedDRA: -
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