Rhizomelic Chondrodysplasia Punctata (RCDP)

    ALTERNATE NAMES
    RCDP; RCP; Chondrodysplasia Punctata Rhizomelic; Rhizomelic Chondrodysplasia Punctata Classic Type; Rhizomelic Chondrodysplasia Punctata Type 1; RCDP1; Rhizomelic Chondrodysplasia Punctata Type 2; RCDP2; Rhizomelic Chondrodysplasia Punctata Type 3; RCDP3

    DESCRIPTION
    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.

    ICD-9: 277.86

    ONSET AND PROGRESSION
    Most survive only into childhood; it is rare for an affected child to live past age 10. Death is usually caused by recurrent respiratory infections.

    TREATMENT
    There is no current cure for RCDP. Treatment is supportive and many include physical therapy, anti-seizure medication, hearing amplification, and cataract removal."