Emery-Nelson syndrome
MONDO:0007696Mondo
Findings
No curated finding names Emery-Nelson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
12 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 thumb morphologyHPOHP:0001172
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Interphalangeal thumb joint contractureHPOHP:0009626
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Metacarpophalangeal joint contractureHPOHP:0006070
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Emery-Nelson syndrome
- Also called
- hand and foot deformity-flat facies syndrome