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Triphalangeal thumbs-brachyectrodactyly syndrome

Synonym(s) Carnevale-Hernández-del Castillo syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q74.8
  • C1860804
  • C536564
MedDRA -


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.

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