Hardikar syndrome

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Disease Overview

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.[10822][10823] Only four cases have been reported in the medical literature.[10823] The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.[10822][10824][10825]


Synonyms

  • Cholestasis-pigmentary retinopathy-cleft palate syndrome

For more information, visit GARD.

National Organization for Rare Disorders