Ehlers-Danlos syndrome, spondylocheirodysplastic type

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a rare form of Ehlers-Danlos syndrome that affects connective tissue. It is marked by skeletal differences such as a flat appearance of the spine (platyspondyly), moderate short stature, brittle bones (osteopenia), and widened areas near the joints (metaphyses). The condition also involves skin that is thin, very stretchy, and prone to bruising easily. Additional features noted include joint hypermobility, especially in small joints with a risk of contractures, and distinct facial traits like prominent eyes with bluish whites (sclerae). Other physical characteristics include wrinkled palms, thinning of the small muscles in the thumb (thenar muscle), and tapering fingers. These signs, together with genetic findings related to the SLC39A13 gene, help highlight the unique profile of this syndrome.

People with this condition may experience short stature, weak bones, and joint issues such as hypermobility and contractures. They can also have thin, easily bruised skin, along with features like prominent eyes with bluish whites, wrinkled palms, and tapering fingers.

This condition is linked to changes in the SLC39A13 gene. Variants in this gene impact the development of connective tissue, which in turn causes the skeletal and skin features seen in this disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.