" /> Rhizomelic chondrodysplasia punctata - CISMeF





Preferred Label : Rhizomelic chondrodysplasia punctata;

ICD-11 definition : Rhizomelic chondrodysplasia is a peroxisomal disease that belongs to the group of chondrodysplasia punctata, in which the common characteristic is calcifications near joints at birth. Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.;

ICD-11 synonym : Chondrodysplasia punctata, autosomal recessive type; RCDP - [rhizomelic chondrodysplasia punctata];

ICD-11 acronym : RCDP;

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Rhizomelic chondrodysplasia is a peroxisomal disease that belongs to the group of chondrodysplasia punctata, in which the common characteristic is calcifications near joints at birth. Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.

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31/05/2025


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