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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lissencephaly 2


Other Names for this Disease
  • LIS2
  • Norman Roberts lissencephaly syndrome
  • Lissencephaly syndrome Norman-Roberts type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion.[1] Mutations in the RELN gene have been identified in some affected individuals.[2]
Last updated: 1/24/2012

References

  1. Gleeson JG. Lissencephaly. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/454/viewAbstract. Accessed 1/24/2012.
  2. Lissencephaly syndrome, Norman-Roberts type. Orphanet. March 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89844. Accessed 1/24/2012.
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Basic Information

  • Genetics Home Reference contains information on Lissencephaly 2. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Lissencephaly 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • LIS2
  • Norman Roberts lissencephaly syndrome
  • Lissencephaly syndrome Norman-Roberts type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.