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Cholestasis - pigmentary retinopathy - cleft palate

ORPHA1415
Synonym(s) Hardikar syndrome
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by cholestasis, cleft lip and palate, retinal pigmentation, hydronephrosis and intestinal obstruction. It has been described in four individuals (two unrelated patients from Australia, one from Belgium and one from Japan). The oral cleft may be of variable severity. The pigmentary retinopathy has a patchy aspect (cat's paw). Mental development is normal or moderately delayed. Initial growth retardation was noted in all the reported patients. The cholestasis, associated with mild and fluctuating jaundice, is thought to be due to obstruction of biliary canals, although this was only confirmed in one of the patients. The underlying aetiology of the hydronephrosis varied between patients: vesicoureteral reflux, stenotic or ectopic ureter. Intestinal obstruction is due to malrotation or the presence of a gut diaphragm in one case. All described cases were sporadic, and whether or not the syndrome is genetic is yet to be determined.


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