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Triphalangeal thumbs-brachyectrodactyly syndrome

Disease definition

A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.

ORPHA:2947

Classification level: Disorder
  • 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: -
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