Eng-Strom syndrome
MONDO:0007618Mondo
Findings
No curated finding names Eng-Strom syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007618), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Eng-Strom syndrome
- Also called
- short stature-locking fingers syndrome