Hardikar syndrome

Other Names: Cholestasis-pigmentary retinopathy-cleft palate syndrome

Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.

NIH genetic and rare disease info

• NIH info on Hardikar syndrome

Hardikar syndrome is a rare disease.

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