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Acropectorovertebral dysplasia
Disease definition
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
ORPHA:957
Classification level: DisorderSummary
Epidemiology
It has been described in less than 30 patients from three unrelated families.
Clinical description
Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.
Etiology
The causative gene has been mapped to chromosome region 2q36.
Genetic counseling
This syndrome is transmitted as an autosomal dominant trait with full penetrance.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
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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