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15q overgrowth syndrome
rare15q 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.
- Identifiers
- MONDO:0017806 Orphanet:314585
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOvergrowth syndromePartial duplication of the long arm of chromosome 15
- Also known as
- 15q26 overgrowth syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Distal tetrasomy 15q | |
| Distal trisomy 15q |
Rare disease
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