Ehlers-Danlos syndrome, spondylodysplastic type
Findings
No curated finding names Ehlers-Danlos syndrome, spondylodysplastic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Definition from the Mondo Disease Ontology (MONDO:0007526), read 2026-09-29. CC BY 4.0.
Features
38 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.
- Aortic valve stenosisHPOHP:0001650
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Cutis laxaHPOHP:0000973
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- GingivitisHPOHP:0000230
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- LipodystrophyHPOHP:0009125
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Long toeHPOHP:0010511
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Palmoplantar cutis gyrataHPOHP:0007469
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- Very frequent (80% to 99% of cases)
- Progeroid facial appearanceHPOHP:0005328
- Very frequent (80% to 99% of cases)
- Pulmonic stenosisHPOHP:0001642
- Very frequent (80% to 99% of cases)
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Ehlers-Danlos syndrome, spondylodysplastic type
- Also called
- B4GALT7-CDGdefective biosynthesis of proteodermatan sulfatedefective biosynthesis of proteodermatan sulphateEDS, progeroid typegalactosyltransferase I deficiencyPDS