Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an inherited disease characterized by skeletal abnormalities, growth retardation, intellectual disabilities, cataracts and decreased life expectancy. The signs and symptoms associated with RCDP1 are attributed to a defect in the body’s ability to produce a specific type of fat called plasmalogens which are necessary for normal neurological function and skeletal formation. View testing options