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2q37 deletion syndrome

Other Names for this Disease
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-Mental Retardation syndrome
  • Chromosome 2q37 deletion syndrome
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2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.[1]
Last updated: 7/7/2011


  1. 2q37 deletion syndrome. Genetics Home Reference. April 2009; Accessed 7/7/2011.
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In Depth Information

  • 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 2q37 deletion syndrome. Click on the link to view a sample search on this topic.