The name of this disorder comes from the punctate calcification seen in cartilage. The vertebrae have coronal clefting. The cartilage abnormalities result in defective bone growth with severe growth retardation, short stature, and joint contractures. Many infants die during the neonatal period and few survive beyond the first decade of life. However, milder forms have been reported. The skin can be ichthyotic and severe mental retardation is often accompanied by seizures. Red cells are deficient in plasmalogens while phytanic acid and very long chain fatty acids accumulate in the plasma, a biochemical profile characteristic of RCDP1.
Other types of chondrodysplasia punctata also exist (RCDP2 and RCDP3). The X-linked recessive (CDPX1; 302950), autosomal dominant tibia-metacarpal (118651), and humero-metacarpal types are not associated with cataracts.
A phenocopy sometimes results from maternal ingestion of dicoumarol in early pregnancy.