15q overgrowth syndrome

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15q overgrowth syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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15q overgrowth syndrome?

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