Hardikar syndrome is characterised by<unk> ,<unk>  lip and<unk> , 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<unk>  may be of variable severity. The<unk><unk>  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<unk> , 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.
Cholestasis -- pigmentary retinopathy -- cleft palate
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa
Brachydactyly - arterial hypertension
Anophthalmia-short stature-obesity
Distichiasis - heart and vasculature anomalies - sinus bradycardia
Osteoporosis -- oculocutaneous -- hypopigmentation syndrome
Renal tubulopathy-diabetes mellitus-cerebellar ataxia
Acral dysostosis - dyserythropoiesis