Ehlers-Danlos syndrome, spondylodysplastic type, 2
Findings
No curated finding names Ehlers-Danlos syndrome, spondylodysplastic type, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014139), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
104 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Beaking of vertebral bodiesHPOHP:0004568
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Finger joint hypermobilityHPOHP:0006094
- 4 of 4 reported patients
- Flat faceHPOHP:0012368
- 14 of 14 reported patients
- Hyperplasia of the femoral trochantersHPOHP:0002822
- 4 of 4 reported patients
- Hypoplastic iliaHPOHP:0000946
- 10 of 10 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 92
- PlatyspondylyHPOHP:0000926
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- 4 of 4 reported patients
- ProptosisHPOHP:0000520
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 10 of 10 reported patients
- Soft, doughy skinHPOHP:0001027
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Soft skinHPOHP:0000977
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- B3GALT6HGNC:17978
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
10 names
Resolves to: Ehlers-Danlos syndrome, spondylodysplastic type, 2
- Also called
- B3GALT6 Ehlers-Danlos syndrome progeroid typeB3GALT6-related spEDSB3GALT6-related spondylodysplastic EDSBeta3GalT6-deficient EDSEDSP2EDSSPD2Ehlers-Danlos syndrome progeroid type 2Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6Ehlers-Danlos syndrome, progeroid type, 2spEDS-B3GALT6