Mietens syndrome
MONDO:0009582Mondo
Findings
No curated finding names Mietens syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
Definition from the Mondo Disease Ontology (MONDO:0009582), 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.
- AphasiaHPOHP:0002381
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- EcholaliaHPOHP:0010529
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- MutismHPOHP:0002300
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Elbow ankylosisHPOHP:0003070
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Mietens syndrome
- Also called
- intellectual disability, Mietens-Weber type