Acro-renal-ocular syndrome

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A rare syndrome of multiple congenital anomalies characterized by radial ray malformations renal abnormalities (mild malrotation ectopia horseshoe kidney renal hypoplasia vesico-ureteral reflux bladder diverticula) and ophthalmological abnormalities (mainly colobomas but also microphthalmia ptosis and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.

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 May 2024

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Acro-renal-ocular syndrome?

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