Rhizomelic Chondrodysplasia Punctata

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.

**Synonyms:** - Rhizomelic Chondrodysplasia Punctata Syndrome - Rhizomelic Dwarfism