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Definition

A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.

Acronym

RCDP5

Synonyms

Rhizomelic chondrodysplasia punctata, type 5

Keywords

Rhizomelic chondrodysplasia punctata
Peroxisome biogenesis disorder