CHARGE 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.

CHARGE syndrome is a genetic neurodevelopmental condition. It is usually caused by a de novo variant, although it can occasionally be inherited in an autosomal dominant manner, so absence of a relevant family history does not exclude the diagnosis. The acronym ‘CHARGE’ refers to Coloboma, Heart disease, Atresia choanae, Retardation of growth and development and/or CNS anomalies, Genital anomalies and hypogonadism, and Ear anomalies and deafness.

It can present with psychiatric features such as anxiety, obsessive-compulsive behaviours, autism spectrum disorder (ASD), ADHD-like symptoms, behavioural dysregulation, social difficulties, and, less commonly, mood or other psychiatric disorders. These features can persist into adolescence and adulthood, and anxiety and obsessive-compulsive symptoms (and OCD) are particularly well described in adults with CHARGE syndrome.

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

  • Short neck

  • Microtia

  • Lop Ear

Other characteristic features include developmental delay or intellectual disability, hearing impairment, vestibular dysfunction causing impaired balance and delayed motor development, cranial nerve dysfunction causing facial palsy or impaired swallowing, and congenital heart defects. Other important features include hypogonadotropic hypogonadism with delayed or absent puberty, growth deficiency, hypothyroidism, seizures, cleft lip or palate, and renal abnormalities.

Early diagnosis is important to identify potentially serious congenital, sensory, endocrine, neurological, and developmental complications; to optimise hearing, vision, communication, mobility, and educational support; and to allow appropriate surveillance and management of cardiac, airway, swallowing, endocrine, and neurological problems.

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.