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Brachydactyly type E

Disease definition

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

ORPHA:93387

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 113300  613382
  • UMLS: C0265312
  • MeSH: -
  • GARD: 987
  • MedDRA: -

Summary

Epidemiology

BDE is very rare.

Clinical description

Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature.

Etiology

BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32).

Antenatal diagnosis

It is inherited as an autosomal dominant trait with variable expressivity.

- Last update: October 2010

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