HomeGeneticsCondition2q37 deletion syndrome
Back to Condition
2q37 deletion syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

2q37 deletion syndrome

2q37 deletion syndrome is a rare genetic condition caused by the loss of genetic material from a specific region on chromosome 2, leading to a range of developmental delays, intellectual disability, and distinctive physical features.

Overview

2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.

Unusual physical features are also common in people with 2q37 deletion syndrome. About half of affected individuals have unusually short fingers and toes (brachydactyly), often with abnormally short fourth toes that may overlap the other toes. Additional features of this condition may include short stature, obesity, or scoliosis. Many people with 2q37 deletion syndrome have characteristic facial features that can include a broad forehead, a low frontal hairline, thin eyelids, skin folds covering the inner corner of the eyes (epicanthal folds), outside corners of the eyes that point upward (upslanting palpebral fissures), a small nose, a small mouth with thin lips, a smooth space between the upper lip and nose (philtrum), prominent cheekbones, a large chin, and minor ear abnormalities.

Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor.

Frequency

2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. At least 115 cases have been reported worldwide.

Causes & Risk Factors

2q37 deletion syndrome is caused by deletions from a specific region in the long (q) arm of chromosome 2. The deletions occur near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals, with most affected people missing 2 million to 9 million DNA building blocks (also written as 2 Mb to 9 Mb).

Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body.

Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4, is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. It is unclear what role the other genes on 2q37 play in this disorder.

Inheritance

Most cases of 2q37 deletion syndrome are not inherited. They result from a de novo mutation 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, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. In these cases, the parent is usually less severely affected than the child, for reasons that are unknown. When an affected child inherits a chromosomal deletion from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the altered chromosome in each cell is sufficient to cause the disorder.

Other Names

  • 2q37 microdeletion syndrome
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-mental retardation syndrome
  • Chromosome 2q37 deletion syndrome (disorder)
  • Deletion 2q37
  • Monosomy 2q37

Frequently Asked Questions

Management is multidisciplinary and tailored to the child's specific needs. Physical therapy helps improve muscle tone and motor skills, while occupational therapy addresses daily living activities. Speech therapy is crucial for communication development. Educational support and behavioral therapies are often needed for intellectual disability and autism spectrum disorder. Regular monitoring for seizures, eczema, and potential heart or brain malformations is also essential.
2q37 deletion syndrome is usually a de novo (new) genetic change, meaning it occurs spontaneously and is not inherited from either parent. In such cases, the risk of it happening again in a future pregnancy is very low, though genetic counseling is recommended. If a parent is found to carry a balanced chromosomal rearrangement involving 2q37, the risk of recurrence would be higher. Individuals with the syndrome can pass it on to their children, with a 50% chance for each child.
Key medical complications to monitor include seizures, which affect some individuals and require appropriate medication. Cardiac malformations and brain abnormalities, though less common, can be serious and warrant screening. Inflammatory skin conditions like eczema are also frequent and need dermatological management. Regular developmental assessments are crucial to address intellectual disability and behavioral challenges, including autism spectrum disorder, as they arise.
Parents might first notice weak muscle tone (hypotonia) in their baby, which can affect feeding and motor development. Other early indicators can include delayed milestones like sitting or walking, and distinctive physical features such as unusually short fingers and toes (brachydactyly), especially the fourth toe, or specific facial characteristics like a broad forehead or small mouth. Behavioral differences, including those consistent with autism spectrum disorder, may also become apparent as the child grows.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss