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Trichorhinophalangeal syndrome type 1 and 3

Disease definition

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

ORPHA:77258

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 190350  190351
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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