Cholestasis-pigmentary retinopathy-cleft palate syndrome
Synonyms: Hardikar syndrome
A rare multiple congenital malformation syndrome characterized by an association of cleft lip and palate patchy pigmentary retinopathy (cat’s paw) obstructive liver disease (cholestasis portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion obstruction vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta pulmonary artery stenosis etc.) have also been reported. An overlap with Kabuki syndrome is debated.
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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Cholestasis-pigmentary retinopathy-cleft palate syndrome?
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