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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.

ORPHA:1415

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: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2004) Polski (2017, pdf) Polski ()

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.