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Cholestasis-pigmentary retinopathy-cleft palate syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Hardikar syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 301068
  • UMLS: C0795969
  • MeSH: C535632
  • GARD: 9280
  • MedDRA: -
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