15q overgrowth syndrome
MONDO:001780615q 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.
Also known as: 15q26 overgrowth syndrome
6 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Overgrowth syndrome
(1)
Partial duplication of the long arm of chromosome 15
(1)
Disease by developmental or physiological process
(0)