Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare, inherited disorder that results in congenital skeletal abnormalities with shortening of proximal long bones, distinctive facial features, intellectual disability, and recurrent respiratory problems. Painful joint contractures, poor growth, cataracts developing in infancy, hearing loss, and seizures also occur frequently. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: The diagnosis is confirmed by biochemical or genetic testing of the gene mutation resulting in abnormal enzyme activity:
Type 1--peroxisomal enzyme function, including red blood cell concentration of plasmalogens (deficient), plasma concentration of phytanic acid (elevated), and plasma concentration of very long chain fatty acids (VLCFA) (normal) (PEX7);
Type 2--glyceronephosphate O-Acyl transferase (GNPAT);
Type 3--alkyldihydroxyacetonephosphate synthase (AGPS).
Physical findings: Developmental delays, growth failure, cataracts, midface hypoplasia (prominent forehead, widely set eyes, sunken appearance of the middle of the face, small nose with upturned nostrils, and full cheeks), shortening of bones in upper extremities and femurs, and joint contractures.