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Terminal osseous dysplasia-pigmentary defects syndrome

Disease definition

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

ORPHA:88630

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 300244
  • UMLS: C1846129
  • MeSH: -
  • GARD: -
  • MedDRA: -
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