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Fairbank disease

A hereditary skeletal disorder that is generally charcterized by short stature and severe early-onset OSTEOARTHRITIS that especially affects the hips. Affected individuals may also have BRACHYDACTYLY and hyperextendable fingers and toes due to delayed ossification of EPIPHYSES. It is caused by mutations in the CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) gene. OMIM: 132400
Also Known As:
Dysplasia epiphysealis multiplex; Epiphyseal Dysplasia, Fairbank Type; Epiphyseal Dysplasia, Ribbing Type; Epiphyseal dysplasia Fairbank type; Fairbank multiple epiphyseal dysplasia
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Disease Context: Research Results