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Triphalangeal thumbs-brachyectrodactyly syndrome

Disease definition

Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.

ORPHA:2947

  • Synonym(s):
    • Carnevale-Hernández-del Castillo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q74.8
  • OMIM: 190680
  • UMLS: C1860804
  • MeSH: C536564
  • GARD: 5290
  • MedDRA: -

Additional information

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