Cantú 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.

Cantú syndrome is a rare genetic condition involving abnormal regulation of potassium channels. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include congenital hypertrichosis, cardiomegaly, and skeletal abnormalities.

It can present with psychiatric features such as ADHD, autism spectrum disorder (ASD), obsessive-compulsive symptoms (and OCD), anxiety, depression, mood swings, and other behavioural difficulties. These neurobehavioural manifestations are more commonly described in children and adolescents, although psychiatric manifestations can also occur in adulthood.

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

  • Macrocephaly

  • Coarse face

  • Epicanthus

  • Depressed nasal bridge

  • Broad nasal bridge

  • Long philtrum

  • Thick vermilion

  • Large tongue

  • Alveolar ridge overgrowth

Other characteristic features include developmental delay, hypotonia, and peripheral oedema. Cardiovascular abnormalities may include pericardial effusion and patent ductus arteriosus. Other skeletal abnormalities may include scoliosis, broad ribs, and abnormalities of the long bones. Neurological manifestations may include headache or migraine, seizures, and, less commonly, cerebrovascular abnormalities. Respiratory complications may include pulmonary hypertension and sleep-disordered breathing.

Early diagnosis is important to identify and manage potentially significant cardiovascular, respiratory, neurological, skeletal, and developmental complications; to provide appropriate developmental, educational, and behavioural support; and to allow surveillance and management of cardiac disease, pulmonary hypertension, seizures, and other medical complications.

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.