Other Names for this Disease
- Miller-Dieker lissencephaly syndrome
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lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood. MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. Treatment is based on the symptoms in each person and aims to prevent complications and control seizures.Miller-Dieker syndrome (MDS) is a genetic condition characterized by a specific brain malformation (
Last updated: 5/18/2016
- Carlos A Bacino. Microdeletion syndromes (chromosomes 12 to 22). UpToDate. Waltham, MA: UpToDate; April, 2016;
- Miller-Dieker syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome.
- Pilz D. Miller-Dieker syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=531.
- The Cortical Foundation provides information about Miller-Dieker syndrome.
- 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.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Miller-Dieker syndrome.
- 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 Miller-Dieker syndrome. Click on the link to view a sample search on this topic.