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Multiple epiphyseal dysplasia type 4
Disease definition
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
ORPHA:93307
Classification level: DisorderA summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Polski (2017, pdf)
Detailed information
General public
- Article for general public
- Svenska (2010) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2023) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
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