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Genetic and Rare Diseases Information Center (GARD)

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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
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

What is 2q37 deletion syndrome?

What are the signs and symptoms of 2q37 deletion syndrome?

What causes 2q37 deletion syndrome?

What is 2q37 deletion syndrome?

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

What are the signs and symptoms of 2q37 deletion syndrome?

Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.[1]

Unique is a source of information and support to families and individuals affected by rare chromosome disorders. On their Web site, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome. Click on the link below to view this information.
http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletions%20FTNW.pdf
Last updated: 7/7/2011

What causes 2q37 deletion syndrome?

2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.[1]
Last updated: 7/7/2011

References
  1. 2q37 deletion syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome. Accessed 7/7/2011.


Other Names for this Disease
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-Mental Retardation syndrome
  • Chromosome 2q37 deletion 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.