Ehlers-Danlos syndrome, spondylocheirodysplastic type
Findings
No curated finding names Ehlers-Danlos syndrome, spondylocheirodysplastic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
Definition from the Mondo Disease Ontology (MONDO:0012873), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Webbed neckHPOHP:0000465
- 8 of 8 reported patients
- Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPO
Show the remaining 20
- Cigarette-paper scarsHPOHP:0001073
- 5 of 7 reported patients
- Flared metaphysisHPOHP:0003015
- 4 of 6 reported patients
- Abnormal metaphysis morphologyHPOHP:0000944
- Frequent (30% to 79% of cases)
- Absent palmar creaseHPOHP:0010489
- Frequent (30% to 79% of cases)
- Broad femoral neckHPOHP:0006429
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% 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.
- SLC39A13HGNC:20859
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: Ehlers-Danlos syndrome, spondylocheirodysplastic type
- Also called
- EDS, spondylocheirodysplastic type