Global InformationSpondyloperipheral dysplasia information
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| Spondyloperipheral dysplasia | |
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| Other names | Spondyloperipheral dysplasia-short ulna syndrome |
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| Spondyloperipheral dysplasia has an autosomal dominant pattern of inheritance. | |
Spondyloperipheral dysplasia is an autosomal dominant[1] disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
- ^ Zabel, B.; Hilbert, K.; Stöß, H.; Superti-Furga, A.; Spranger, J.; Winterpacht, A. (May 1996). "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia". American Journal of Medical Genetics. 63 (1): 123–128. doi:10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. PMID 8723097.