Ehlers-Danlos Syndrome Type Spondylodysplasia 1
Presentation
[…] intellectual disability, and pes planus.[2][3] Spondylodysplastic EDS may be caused by mutations in the B4GALT7gene, the B3GALT6, or the SLC39A13 gene.[3] It isinherited in an autosomal recessive pattern.[4] Treatment depends on the symptoms that are present [rarediseases.info.nih.gov]
Treatment
Treatment Treatment People with spondylodysplastic Ehlers-Danlos syndrome can benefit from a variety of treatments depending on their symptoms. [rarediseases.info.nih.gov]