2q37 deletion syndrome

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

2q37 deletion syndrome is a rare genetic disorder caused by deletion of part of the long arm of chromosome 2. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. Most cases arise de novo, although inherited cases can occur. A distinctive presentation may include the combination of prominent forehead, midface retrusion, upslanting palpebral fissures, and brachydactyly type E.

It can present with psychiatric features such as autism spectrum disorder (ASD), ADHD, behavioral dysregulation, stereotypic behaviors, aggression, and obsessive-compulsive symptoms including obsessive-compulsive disorder (OCD). Cognitive impairment, developmental delay, learning difficulties, and speech and language impairment are common. These manifestations generally emerge during childhood or development, although behavioral and neuropsychiatric difficulties may persist into adulthood and require ongoing assessment and support.

From a morphologic lens perspective, other features include (but are not limited to):

  • Frontal bossing

  • Round face

  • Midface retrusion

  • Epicanthus

  • Upslanted palpebral fissures

  • Microtia

  • Depressed nasal bridge

  • Short nose

  • Underdeveloped alae nasi

  • Smooth philtrum

  • Short philtrum

  • Short palm

  • Short metacarpal – third, fourth and/or fifth

  • Syndactyly

  • Clinodactyly of fifth fingers

  • Prominent fingertip pads

Other characteristic features include hypotonia, short stature, obesity, and brachydactyly type E brachydactyly type E (shortening of the metacarpals and/or metatarsals; in this condition, particularly the fourth metacarpal). Neurologic manifestations may include seizures/epilepsy and structural brain abnormalities. Additional reported features include congenital heart defects, renal and genitourinary abnormalities including Wilms tumor, joint hypermobility, scoliosis, eczema, and feeding or other gastrointestinal abnormalities.

Early diagnosis is important to identify and monitor potentially serious neurologic, cardiac, renal, and gastrointestinal complications, recognize neuropsychiatric needs early, and institute tailored multidisciplinary surveillance and treatment.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.