Ehlers-Danlos syndrome, spondylodysplastic type, 1
MONDO:0020682Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, spondylodysplastic type, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Short statureHPOHP:0004322
- 29 of 29 reported patients
- Hyperextensible skinHPOHP:0000974
- 30 of 32 reported patients
- Narrow mouthHPOHP:0000160
- 28 of 30 reported patients
- ProptosisHPOHP:0000520
- 28 of 30 reported patients
- Broad foreheadHPOHP:0000337
- 29 of 32 reported patients
- Flat faceHPOHP:0012368
- 29 of 32 reported patients
- HypertelorismHPOHP:0000316
- 28 of 32 reported patients
- CraniosynostosisHPOHP:0001363
- 6 of 8 reported patients · Congenital onset
- Low-set earsHPOHP:0000369
- 7 of 10 reported patients
- Blue scleraeHPOHP:0000592
- 6 of 10 reported patients
- Radioulnar synostosisHPOHP:0002974
- 18 of 31 reported patients
- Dislocated radial headHPOHP:0003083
- 17 of 31 reported patients
Show the remaining 17
- Flared metaphysisHPOHP:0003015
- 4 of 8 reported patients
- Flexion contractureHPOHP:0001371
- 4 of 9 reported patients
- HypermetropiaHPOHP:0000540
- 12 of 29 reported patients
- Mild global developmental delayHPOHP:0011342
- Occasional (5% to 29% of cases)
- Generalized hypotoniaHPOHP:0001290
- 10 of 32 reported patients
- Motor delayHPOHP:0001270
- 10 of 32 reported patients
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.
- B4GALT7HGNC:930
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
11 names
Resolves to: Ehlers-Danlos syndrome, spondylodysplastic type, 1
- Also called
- dermatan sulfate proteoglycandermatan sulphate proteoglycanEDSSPD1Ehlers-Danlos syndrome with Short stature and Limb anomaliesEhlers-Danlos syndrome, progeroid type 1Ehlers-Danlos syndrome, progeroid type, 1galactosyltransferase 1 deficiencyPDS, defective biosynthesis ofproteodermatan sulfate, defective biosynthesis ofXGPT deficiencyxylosylprotein 4-Beta-galactosyltransferase deficiency