Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an inherited peroxisomal disorder characterized by shortening of the upper arms and thighs. Children with RCDP1 will also develop stiff and painful joint deformities, severe intellectual disability, seizures, and breathing problems. If not already present at birth, they will also develop cataracts in the first few months of life. Children with RCDP1 usually do not survive past the age of 10. A milder form of the disorder has been recognized, where individuals have lived into early adulthood, but it is also much less commonly seen. RCDP1 is caused by pathogenic variants in the PEX7 gene.