arthrogryposis-severe scoliosis syndrome
Findings
No curated finding names arthrogryposis-severe scoliosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
Definition from the Mondo Disease Ontology (MONDO:0012195), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- 2-5 finger cutaneous syndactylyHPOHP:0005650
- CamptodactylyHPOHP:0012385
- Congenital onset
- Camptodactyly of 2nd-5th fingersHPOHP:0001215
- Deviation of the 2nd toeHPOHP:0010326
- Distal arthrogryposisHPOHP:0005684
- Equinovarus deformityHPOHP:0008110
- Fibular deviation of toesHPOHP:0100500
- Horizontal nystagmusHPOHP:0000666
- Hypoplastic helices
Show the remaining 6
- NystagmusHPOHP:0000639
- OsteopeniaHPOHP:0000938
- ScoliosisHPOHP:0002650
- Severe intellectual disabilityHPOHP:0010864
- Single transverse palmar creaseHPOHP:0000954
- Talipes equinovarusHPOHP:0001762
Where it sits
- A kind of
Other names
2 names
Resolves to: arthrogryposis-severe scoliosis syndrome
- Also called
- distal arthrogryposis type 4distal arthrogryposis type IID