15q overgrowth syndrome
Findings
No curated finding names 15q overgrowth syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
Definition from the Mondo Disease Ontology (MONDO:0017806), read 2026-09-29. CC BY 4.0.
Features
89 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 joint morphologyHPOHP:0001367
- 5 of 5 reported patients
- Long philtrumHPOHP:0000343
- 5 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- High anterior hairlineHPOHP:0009890
- 25 of 26 reported patients
- Abnormal pinna morphologyHPOHP:0000377
- 9 of 10 reported patients
- Prominent noseHPOHP:0000448
- 31 of 36 reported patients
- Abnormal facial shape
Show the remaining 77
- Contracture of the proximal interphalangeal joint of the 2nd fingerHPOHP:0009540
- Very frequent (80% to 99% of cases)
- Contracture of the proximal interphalangeal joint of the 3rd fingerHPOHP:0009471
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- 6 of 28 reported patients
- Very frequent (80% to 99% of cases)
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 9 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Early-onset non-progressive night blindness
Where it sits
Other names
1 name
Resolves to: 15q overgrowth syndrome
- Also called
- 15q26 overgrowth syndrome