ARSL encodes an arylsulfatase enzyme that catalyzes sulfate hydrolysis from artificial substrates and may be essential for normal cartilage and bone matrix composition during skeletal development. The protein localizes to the endoplasmic reticulum lumen and Golgi apparatus, consistent with its role in extracellular matrix processing. ARSL is the causative gene for X-linked recessive chondrodysplasia punctata 1 (CDPX1), a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachydactyly 1. In affected fetuses, prenatal ultrasonography reveals nasal hypoplasia in 55% of cases, bony stippling or calcifications in 41%, shortened long bones in 23%, and spinal canal stenosis in 23%; a previously unreported association with intrauterine fetal death or stillbirth has also been noted 1. Pathogenic variants include frameshift deletions and other loss-of-function mutations 2. Notably, CDPX1 can manifest in heterozygous females through uniparental disomy, a rare mode of inheritance in X-linked recessive conditions 3. Currently, no disease-specific pharmacological therapies are available; clinical management focuses on prenatal diagnosis, genetic counseling, and supportive care. Understanding ARSL's role in skeletal development may inform future therapeutic strategies for this severe developmental disorder.