Rhizomelic chondrodysplasia punctata

This code identifies a rare, severe inherited peroxisomal disorder characterized by skeletal abnormalities, particularly shortened bones in the upper arms and thighs, punctate calcifications in cartilage, and cataracts. It often presents with profound developmental delays, intellectual disability, and significant neurological impairment.

Assign this code for patients diagnosed with rhizomelic chondrodysplasia punctata (RCDP) type 1, 2, or 3. Documentation should clearly indicate the diagnosis of RCDP, typically confirmed by genetic testing or characteristic clinical and radiographic findings. This code is appropriate for initial diagnosis and subsequent encounters related to managing the condition.

• Ensure documentation specifies "rhizomelic" to differentiate from other forms of chondrodysplasia punctata.
• Look for associated conditions like cataracts, intellectual disability, or seizures, and code them separately if present.
• Genetic testing results confirming PEX gene mutations (PEX7, PEX5, PEX12) or other RCDP-related genes support this diagnosis.