Rhizomelic chondrodysplasia punctata
ICD-10 E71.540 is a billable code used to indicate a diagnosis of rhizomelic chondrodysplasia punctata.
Rhizomelic chondrodysplasia punctata (RCP) is a rare genetic disorder characterized by skeletal dysplasia, particularly affecting the proximal segments of the limbs (rhizomelia). This condition is caused by a deficiency in the enzyme 2-hydroxyacyl-CoA lyase, which is involved in the metabolism of certain fatty acids. Patients with RCP typically present with short stature, disproportionate limb shortening, and distinctive facial features. Other clinical manifestations may include cataracts, skin lesions, and neurological deficits. The diagnosis is often confirmed through genetic testing, which identifies mutations in the GNPAT gene. Management of RCP is symptomatic and supportive, focusing on improving quality of life and addressing specific complications. Early intervention with physical therapy and orthopedic management can help optimize mobility and function. Due to the rarity of this condition, awareness among healthcare providers is crucial for timely diagnosis and appropriate care.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with skeletal abnormalities and family history of genetic disorders.
Ensure genetic testing results are clearly documented to support the diagnosis.
Growth charts, developmental milestones, and physical examination findings.
Infants or children with disproportionate limb shortening and developmental delays.
Document any referrals to specialists for comprehensive management.
Used when confirming a diagnosis of RCP.
Include genetic counseling notes and test results.
Genetic specialists should ensure comprehensive documentation.
RCP is primarily caused by a deficiency in the enzyme 2-hydroxyacyl-CoA lyase, which affects fatty acid metabolism.
