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Multiple epiphyseal dysplasia type 4

MONDO:0009189

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.

Also known as: EDM4, MED4, Polyepiphyseal dysplasia type 4, Recessive Multiple Epiphyseal Dysplasia, SLC26A2 multiple epiphyseal dysplasia (disease), autosomal recessive multiple epiphyseal dysplasia, epiphyseal dysplasia, multiple, type 4, multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2

59 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Inborn errors of metabolism (42) Human disease (14) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2)
Trials to join now! 30 Not yet recruiting 9 Not yet finished but already full! 7 Completed 12 Terminated 1
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