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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 957
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).
It has been described in less than 30 patients from three unrelated families.
Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.
The causative gene has been mapped to chromosome region 2q36.
This syndrome is transmitted as an autosomal dominant trait with full penetrance.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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