Rhizomelic chondrodysplasia punctata: a genetic condition that affects the development of many different parts of the body. Rhizomelic chondrodysplasia punctata is associated with developmental delays and severe intellectual disability. Physical signs and symptoms include shortening of the bones in the upper arms and thighs (rhizomelia) and a developmental abnormality of the bones known as chondrodysplasia punctata that is apparent on x-ray studies. There are distinctive facial features associated with rhizomelic chondrodysplasia punctata, which include a prominent forehead, a small nose with upturned nostrils, wide-set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), and fullness of the cheeks. Cataracts also are found in almost all affected people. Most affected people survive only into childhood.
Rhizomelic chondrodysplasia punctata is caused by a mutation in one of three genes: the PEX7 gene, the GNPAT gene or the AGPS gene. This condition is inherited in an autosomal recessive manner, which means that each parent must carry a copy of the defective gene and pass this gene to their offspring.