ring chromosome 7
Findings
No curated finding names ring chromosome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
Definition from the Mondo Disease Ontology (MONDO:0015441), read 2026-09-29. CC BY 4.0.
Features
58 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 posterior cranial fossa morphologyHPOHP:0000932
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Bilateral ptosisHPOHP:0001488
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
Show the remaining 46
- HypotelorismHPOHP:0000601
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: ring chromosome 7
- Also called
- Ring chromosome type 7rose cluster 7