What is (are) Ehlers-Danlos syndrome, progeroid type ?
Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern.