Rhizomelic Chondrodysplasia Punctata Type 1

Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1) is a rare peroxisomal disorder characterized by distinctive skeletal abnormalities, cataracts, growth failure, and severe intellectual disability. The name "rhizomelic" refers to the characteristic shortening of the proximal (near the trunk) limb bones—the humeri and femurs—while "chondrodysplasia punctata" describes the stippled appearance of cartilage on X-rays.

Affected infants typically have symmetric shortening of the upper arms and thighs, a distinctive facial appearance with a flat face and full cheeks, cataracts that are usually present at birth, and profound growth restriction. Intellectual disability is severe, and most affected children do not achieve developmental milestones like sitting or speaking. Joint contractures are common.

RCDP1 results from deficient plasmalogen synthesis, a class of lipids that are essential components of cell membranes, particularly in the brain and heart. The missing plasmalogens lead to progressive damage to multiple organ systems. Most severely affected individuals do not survive beyond the first decade of life, though there is a spectrum of severity with some individuals having milder forms.

RCDP1 is caused by mutations in the PEX7 gene, which encodes a receptor protein essential for importing certain enzymes into peroxisomes. The condition is inherited in an autosomal recessive pattern. Diagnosis is confirmed by biochemical testing showing elevated phytanic acid and reduced plasmalogens, along with genetic testing. There is currently no cure, and treatment is supportive.

NutraHacker examines the following gene related to Rhizomelic Chondrodysplasia Punctata Type 1:

• PEX7

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