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]
Skin
- Cutis Laxa
laxa Loose and inelastic skin 0000973 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flexion contracture Flexed joint that cannot be straightened 0001371 Gingivitis Inflamed gums Red and swollen gums [ more ] 0000230 Global developmental delay [rarediseases.info.nih.gov]
Musculoskeletal
- Osteopenia
[…] present from birth, to mild and later-onset Bowing of limbs Other symptoms include:[3][5] Skin hyperextensibility; soft, doughy skin; thin, translucent skin Pes planus (flat feet) Delayed motor development Fragile bones from low bone mineral density (osteopenia [rarediseases.info.nih.gov]
- Fracture
Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Scoliosis 0002650 Percent of people who have these symptoms is not available through HPO Absent earlobe [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]