spondylodysplastic Ehlers-Danlos syndrome
MONDO:0034021Mondo
Findings
No curated finding names spondylodysplastic Ehlers-Danlos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
105 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.
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Frequent (30% to 79% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Blue scleraeHPOHP:0000592
- Frequent (30% to 79% of cases)
- Congenital kyphoscoliosisHPOHP:0008453
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Show the remaining 93
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
- Hyperextensible skinHPOHP:0000974
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplastic iliaHPOHP:0000946
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Increased susceptibility to fracturesHPOHP:0002659
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: spondylodysplastic Ehlers-Danlos syndrome
- Also called
- spondylodysplastic EDS