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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hardikar syndrome


Other Names for this Disease
  • Cholestasis-pigmentary retinopathy-cleft palate syndrome
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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.[1][2] Only four cases have been reported in the medical literature.[2] The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.[1][3][4]
Last updated: 3/4/2016

References

  1. Cholestasis-pigmentary retinopathy-cleft palate syndrome. Orphanet. October 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415.
  2. 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.
  3. 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.
  4. 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.
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In Depth Information

  • 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.
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.