You are using an outdated browser. Please upgrade your browser to improve your experience.

15q overgrowth syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0017806:  15q overgrowth syndrome
Orphanet:314585: 
UMLS:CN203769: