short stature-webbed neck-heart disease syndrome
Findings
No curated finding names short stature-webbed neck-heart disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
Definition from the Mondo Disease Ontology (MONDO:0017315), read 2026-09-29. CC BY 4.0.
Features
7 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 facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Generalized abnormality of skinHPOHP:0011354
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Webbed neckHPOHP:0000465
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: short stature-webbed neck-heart disease syndrome
- Also called
- Al Gazali-Aziz-Salem syndrome