autosomal recessive myogenic arthrogryposis multiplex congenita
Findings
No curated finding names autosomal recessive myogenic arthrogryposis multiplex congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
Definition from the Mondo Disease Ontology (MONDO:0017892), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Bilateral facial palsyHPOHP:0430025
- Very frequent (80% to 99% of cases)
- Bilateral talipes equinovarusHPOHP:0001776
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- Fatiguable weakness of proximal limb musclesHPOHP:0030200
- Very frequent (80% to 99% of cases)
- Generalized neonatal hypotoniaHPOHP:0008935
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Congenital knee dislocationHPOHP:0005191
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Flat occiputHPOHP:0005469
- Occasional (5% to 29% of cases)
- Flexion contracture of fingerHPOHP:0012785
- Occasional (5% to 29% of cases)
- Gastrostomy tube feeding in infancyHPOHP:0011471
- Occasional (5% to 29% of cases)
- Gowers signHPOHP:0003391
- Occasional (5% to 29% 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.
- SYNE1HGNC:17089
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive myogenic arthrogryposis multiplex congenita
- Also called
- autosomal recessive myogenic AMCSYNE1-related AMCSYNE1-related arthrogryposis multiplex congenita