Other Names for this Disease
- Miller-Dieker lissencephaly 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.
lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.Miller-Dieker syndrome is a genetic condition characterized by
Last updated: 2/15/2011
- Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/books/NBK5189/. Accessed 2/15/2011.
- Miller-Dieker syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome. Accessed 2/15/2011.
- Pilz D. Miller-Dieker syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=531. Accessed 2/15/2011.
- Genetics Home Reference (GHR) contains information on Miller-Dieker syndrome. 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.
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Miller-Dieker syndrome. Click on the link to view a sample search on this topic.