Ehlers-Danlos syndrome, musculocontractural type
Findings
No curated finding names Ehlers-Danlos syndrome, musculocontractural type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Definition from the Mondo Disease Ontology (MONDO:0011142), read 2026-09-29. CC BY 4.0.
Features
71 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.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Very frequent (80% to 99% of cases)
- Abnormality of the cervical spineHPOHP:0003319
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- Very frequent (80% to 99% of cases)
Show the remaining 59
- Delayed gross motor developmentHPOHP:0002194
- Very frequent (80% to 99% of cases)
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- DysesthesiaHPOHP:0012534
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
Genes
2 genes
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.
Where it sits
Other names
14 names
Resolves to: Ehlers-Danlos syndrome, musculocontractural type
- Also called
- adducted thumb-clubfoot syndromeadducted thumbs-arthrogryposis syndrome, Dundar typeATCSCHST14-related EDSCHST14-related Ehlers-Danlos syndromeD4ST1-deficient EDSD4ST1-deficient Ehlers-Danlos syndromeEDS, arthrogryposic typeEDS, Kosho typeEDS, musculocontractural typeEhlers-Danlos syndrome, arthrogryposic typeEhlers-Danlos syndrome, Kosho typeMCEDSmusculocontractural Ehlers-Danlos syndrome