EP024: Metabolomic mapping of rhizomelic chondrodysplasia punctata

Abstract

Rhizomelic Chondrodysplasia Punctata (RCDP) is an autosomal recessive peroxisome biogenesis disorder, most commonly due to pathogenic variants in the PEX7 gene causing defects in phytanoyl CoA hydroxylase (PHYH), resulting in accumulation of phytanic acid over time. RCDP is characterized by skeletal abnormalities, distinctive facial dysmorphisms, intellectual disability, and respiratory complications. RCDP has both a mild, or non-classic form, and a severe, or classic, form. Individuals with classic RCDP have rhizomelia with proximal shortening of the humerus more pronounced than that of the femur, punctate calcifications in the cartilage with epiphyseal and metaphyseal abnormalities, known as chondrodysplasia punctata, coronal clefts of the vertebral bodies, congenital cataracts, congenital heart disease, profound growth deficiency, severe intellectual disability, and seizures.