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Brachydactyly-syndactyly, Zhao type
Disease definition
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
ORPHA:93409
Classification level: DisorderSummary
Epidemiology
This syndrome has been described in two families.
Etiology
It is caused by HOXD13 mutations in 2q31-q32
Genetic counseling
Brachydactyly-syndactyly, Zhao type is inherited as an autosomal dominant trait.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)
Detailed information
Disease review articles
- Review article
- English (2012) - Open Orthop J


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.