Multiple epiphyseal dysplasia type 4
Synonyms: Autosomal recessive multiple epiphyseal dysplasia | EDM4 | MED4 | Polyepiphyseal dysplasia type 4 | rMED
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Multiple epiphyseal dysplasia type 4?
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
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