15q overgrowth syndrome

MONDO:0017806

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.

Also known as: 15q26 overgrowth syndrome

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Sub-types

Distal tetrasomy 15q (0) Distal trisomy 15q (0)

Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (8) 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)

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