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Rhizomelic chondrodysplasia punctata

MONDO:0015776

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.

Also known as: RCDP, rhizomelic chondrodysplasia punctata, rhizomelic chondrodysplasia punctata syndrome, rhizomelic dwarfism

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

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Sub-types

Rhizomelic chondrodysplasia punctata type 1 (1) Rhizomelic chondrodysplasia punctata type 2 (1) Rhizomelic chondrodysplasia punctata type 3 (1) Rhizomelic chondrodysplasia punctata type 5 (1) Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain (0)

Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Inherited lipid metabolism disorder (189) Hereditary disease (176) Eye disorder (102) Bone disorder (51) Inborn errors of metabolism (45) Human disease (14) Skeletal system disorder (4)
Trials to join now! 2 Completed 1
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