Other Names for this Disease
- Cholestasis-pigmentary retinopathy-cleft palate syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease,
Last updated: 3/4/2016
- Cholestasis-pigmentary retinopathy-cleft palate syndrome. Orphanet. October 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415.
- Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier-Vergano S. Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals. Am J Med Genet Part A. 2016 Feb; 170A(2):482-486. http://www.ncbi.nlm.nih.gov/pubmed/26471230.
- Ejarque I, Uliana V, Forzano F, Marciano C, Merla G, Zelante L, Di Maria E, Faravelli F. Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?. Clin Genet. 2011 Nov; 80(5):493-6. http://www.ncbi.nlm.nih.gov/pubmed/22243360.
- Poley JR, Proud VK. Hardikar syndrome: new features. Am J Med Genet A. 2008 Oct; 146A(19):2473-9. http://www.ncbi.nlm.nih.gov/pubmed/18792981.
On this page
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hardikar syndrome. Click on the link to view a sample search on this topic.