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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: DisorderSummary
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.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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