MeSH Browser

MeSH Supplementary: Fairbank disease
Unique ID: C536393
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536393
Entry Term(s): Dysplasia epiphysealis multiplex; Epiphyseal Dysplasia, Fairbank Type; Epiphyseal Dysplasia, Ribbing Type; Epiphyseal dysplasia Fairbank type; Fairbank multiple epiphyseal dysplasia
Registry Number: 0
Heading Mapped to: *Foot Deformities, Congenital; *Hand Deformities, Congenital; *Osteochondrodysplasias
Frequency: 13
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Fairbank disease MeSH Supplementary Concept Data 2024