Pediatric Cartilage Hair Dysplasia Syndrome

The main clinical features of pediatric cartilage hair hypoplasia syndrome are dysplasia of hair and metaphyseal cartilage of long bones, which can manifest severe growth and development deficiency after birth, and there is no significant difference in the incidence of men and women. It mainly involves the metaphysis, and the epiphysis and spine are relatively normal, which is a genetic heterogeneous disease. Pediatric cartilage hair dysplasia syndrome is also known as Gatti-LuX syndrome, immunodeficiency with short-limbed dwarfism, McKusick metaphyseal cartilage dysplasia, etc.