ring chromosome 4
Findings
No curated finding names ring chromosome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
Definition from the Mondo Disease Ontology (MONDO:0015439), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Occasional (5% to 29% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: ring chromosome 4
- Also called
- r(4) syndromeRing chromosome type 4rose cluster 4syndrome r(4)