15q overgrowth syndrome
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy syndrome.[1] The condition was first identified in a 2009 report.[2]
| 15q overgrowth syndrome | |
|---|---|
| Other names | 15q26 overgrowth syndrome |
Signs and symptoms
Features of this condition include:[1]
- Facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, and prominent chin)
- Overgrowth (pre- and post-natal)
- Renal anomalies (horseshoe kidney, renal agenesis, and hydronephrosis)
- Mild to severe learning difficulties
- Behavioural anomalies
Macrocephaly and craniosynostosis may also be present.
Causes
The cause of this condition is genetic but its origins are unclear. The condition may be inherited (fashion unknown) or not inherited.[1]
References
- "15q overgrowth syndrome (Concept Id: C4749920)". www.ncbi.nlm.nih.gov. Retrieved 2023-10-03.
- Tatton-Brown, Katrina; Pilz, Daniela T.; Orstavik, Karen Helene; Patton, Michael; Barber, John C. K.; Collinson, Morag N.; Maloney, Vivienne K.; Huang, Shuwen; Crolla, John A.; Marks, Karen; Ormerod, Eli; Thompson, Peter; Nawaz, Zafar; Lese-Martin, Christa; Tomkins, Susan (February 2009). "15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q". American Journal of Medical Genetics. Part A. 149A (2): 147–154. doi:10.1002/ajmg.a.32534. ISSN 1552-4833. PMID 19133692.
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