arthrogryposis multiplex congenita-whistling face syndrome
Findings
No curated finding names arthrogryposis multiplex congenita-whistling face syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Definition from the Mondo Disease Ontology (MONDO:0008825), read 2026-09-29. CC BY 4.0.
Features
24 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 shoulder morphologyHPOHP:0003043
- Very frequent (80% to 99% of cases)
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Joint stiffness
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis multiplex congenita-whistling face syndrome
- Also called
- Illum syndrome