Subtype
Spondylodysplastic Ehlers-Danlos syndrome (spEDS)
Recessive type involving proteoglycan-pathway and zinc-transporter defects; overlaps with spondylo-ocular phenotypes.
Not medical advice. This page summarizes research and does not recommend any course of care.
| Classification | 2017 International Classification |
|---|---|
| Inheritance | autosomal recessive |
| Genes | B4GALT7, B3GALT6, SLC39A13 |
| Genetic status | confirmed genes |
| Prevalence | Rare |
| Distinguishing features | Short stature, skeletal dysplasia, muscle hypotonia, bowing of limbs |
| Last checked | 2026-09-16 |
Records that apply to every EDS type
- Medication, dental, and procedural caution knowledge
- The 2017 classification papers cover symptoms beyond joints and skin
- Twelve subtypes require molecular confirmation; hEDS remains clinical
- Criteria-era drift makes old and new EDS literature non-equivalent
- The 2017 classification groups EDS genes by the process they affect
- Beighton score published for epidemiological joint-mobility assessment
- Berlin nosology expands EDS to eleven numbered types
- Villefranche nosology consolidates to six types
- 2017 International Classification defines thirteen subtypes
- Local anesthetic resistance in EDS: patient reports, two surveys, and a 2026 trial
- A 2017 review of pain management in EDS
- Surgical and tissue-handling caution
- Diagnosing EDS and HSD often takes years
- The DICE Global Registry collects patient-reported data on EDS and HSD
- EDS ECHO teaches clinicians and community members about EDS
- The ClinicalTrials.gov EDS portfolio
- Orphanet and GARD keep reference records for rare diseases, including EDS