2q37 deletion syndrome

2q37 deletion syndrome is a condition that can affect many parts of the body. 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.

Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction.

The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition 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 have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.

How common is 2q37 deletion syndrome?

2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.

What are the genetic changes related to 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.

Read more about chromosome 2.

Can 2q37 deletion syndrome be inherited?

Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.

Where can I find information about treatment for 2q37 deletion syndrome?

These resources address the management of 2q37 deletion syndrome and may include treatment providers.

• Gene Review: 2q37 Deletion Syndrome

You might also find information on treatment of 2q37 deletion syndrome in Educational resources and Patient support.

Where can I find additional information about 2q37 deletion syndrome?

You may find the following resources about 2q37 deletion syndrome helpful. These materials are written for the general public.

• MedlinePlus - Health information (4 links)
• Additional NIH Resources - National Institutes of Health
• National Institute of Neurological Disorders and Stroke: Seizures and Epilepsy: Hope Through Research
• Educational resources - Information pages (6 links)
• Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

What other names do people use for 2q37 deletion syndrome?

• Albright hereditary osteodystrophy-like syndrome
• brachydactyly-mental retardation syndrome

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about 2q37 deletion syndrome?

• See How can I find a genetics professional in my area? in the Handbook.
• Ask the Genetic and Rare Diseases Information Center.
• Submit your question to Ask the Geneticist.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What is a chromosome?
• Can changes in the number of chromosomes affect health and development?
• Are chromosomal disorders inherited?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

What glossary definitions help with understanding 2q37 deletion syndrome?

autism ; brachydactyly ; cancer ; cell ; chromosome ; deletion ; developmental delay ; eczema ; egg ; gastrointestinal ; gene ; genitalia ; hypotonia ; kidney ; malformation ; mental retardation ; muscle tone ; prevalence ; rearrangement ; reproductive cells ; seizure ; short stature ; sign ; sperm ; stature ; symptom ; syndrome ; translocation ; tumor ; Wilms tumor

References

These sources were used to develop the Genetics Home Reference condition summary on 2q37 deletion syndrome.

• Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet. 2004 Jun;41(6):433-9. No abstract available. PubMed citation
• Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A. 2004 Nov 1;130A(4):331-9. PubMed citation
• Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet. 2006 May-Jun;49(3):255-63. Epub 2005 Aug 18. PubMed citation
• Falk RE, Casas KA. Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. Review. PubMed citation
• Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P. Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism. J Child Neurol. 2008 Jul;23(7):802-6. PubMed citation