The 20 Best Recessive Chondrodysplasia Punctata 1 Doctors in British Indian Ocean Territory

Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. CDPX1 is caused by genetic changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males.