Spondylodysplastic Ehlers-Danlos syndrome

Disease Overview

Spondylodysplastic Ehlers-Danlos syndrome (EDS) is a subtype of the EDS, a group of genetic disorders of the connective tissue, which is the material between body cells that gives tissues form and strength. Ehlers-Danlos syndromes primarily affects the skin, hair, and skeletal system. Symptoms usually begin by childhood or adolescence. Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. Features that are unique to this type include short stature; bowing of the legs; weak muscle tone; sparse scalp hair and eyebrows; soft, doughy skin; and thin, translucent skin (which can cause the face to look older).[3815] Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and pes planus.[3816][13312] Spondylodysplastic EDS may be caused by mutations in the B4GALT7 gene, the B3GALT6, or the SLC39A13 gene.[13312] It is inherited in an autosomal recessive pattern.[3817] Treatment depends on the symptoms that are present.

Synonyms

• Proteodermatan sulfate, defective biosynthesis of
• PDS, defective biosynthesis of
• Dermatan sulfate proteoglycan
• Xylosylprotein 4-beta-galactosyltransferase deficiency
• XGPT deficiency
• Galactosyltransferase 1 deficiency
• Ehlers-Danlos syndrome, progeroid type (former)