15q overgrowth syndrome

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

314585

OMIM code

614846

ICD10 code

Q87.3

ICD11 code

*Soruce