15q24 microdeletion 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.

15q24 microdeletion syndrome is a rare genetic disorder caused by deletion of part of the long arm of chromosome 15. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. Most reported cases arise de novo, although inherited cases can occur. A distinctive presentation may include the combination of triangular face, high anterior hairline, widely spaced eyes, and characteristic digital abnormalities.

It can present with psychiatric features such as ADHD, autism spectrum disorder (ASD), hyperactivity, behavioral dysregulation, aggression, and difficulties with social interaction. 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):

  • Triangular face

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Depressed nasal bridge

  • Smooth philtrum

  • Thick vermilion (lower lip)

  • Narrow mouth

  • Short metacarpal – third, fourth and/or fifth

  • Short metacarpal – first metacarpal with proximal placement of thumb

  • Syndactyly (fingers and toes)

Other characteristic features include hypotonia and growth abnormalities. Neurologic manifestations may include seizures/epilepsy and structural brain abnormalities. Ophthalmologic features may include strabismus and nystagmus, while hearing impairment and recurrent ear infections may also occur. Additional reported features include congenital heart defects, feeding difficulties, gastrointestinal abnormalities, renal and genitourinary abnormalities, and genital abnormalities in males.

Early diagnosis is important to identify and monitor potentially serious neurologic, cardiac, auditory, ophthalmologic, renal, and developmental 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.