Haws-type brachydactyly is an autosomal dominant disorder caused by mutations of the GDF5 gene. Characteristic is a shortage of proximal and middle phalanges with sometimes hypersegmentation. The ring finger is often less affected and pjojects beyond all other fingers. Sometimes patients exhibit a short stature and some other skeletal abnormalities.
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Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. |
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None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. |
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Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. |
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Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. |
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Orphanet article Orphanet ID 93384 |
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OMIM.ORG article Omim 113100 |
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Wikipedia article Wikipedia EN (Brachydactyly) |