Rubinstein-Taybi 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.

Rubinstein-Taybi syndrome is a rare genetic disorder characterized by distinctive facial features, broad and often angulated thumbs and great toes, short stature, and intellectual impairment. 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 with autosomal dominant inheritance. A distinctive presentation may include the combination of broad thumbs and great toes, downslanted palpebral fissures, and a hypoplastic maxilla.

It can present with psychiatric features such as ADHD, anxiety, autism spectrum disorder (ASD), impulsivity, mood instability, stereotypic or repetitive behaviors, and behavioral dysregulation. Self-injurious and aggressive behaviors may also occur, while overfriendliness and an unusually high pain threshold may be characteristic behavioral features. Cognitive impairment, developmental delay, and speech and language impairment are common, with verbal abilities often more impaired than nonverbal abilities. These manifestations generally emerge during childhood or development, although anxiety, behavioral difficulties, repetitive behaviors, and other neuropsychiatric difficulties may persist into adulthood or become more prominent later in development.

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

  • Microcephaly

  • Frontal upsweep

  • Frontal bossing

  • Midface retrusion

  • Epicanthus

  • Downslanted palpebral fissures

  • Deeply set eyes

  • Low-set ears

  • Broad thumbs and/or broad halluces

Other characteristic features include hypotonia, seizures/epilepsy, and skeletal abnormalities, including abnormalities of the spine and joints. Ophthalmologic features may include strabismus, refractive errors, ptosis, and other visual abnormalities. Additional reported features include congenital heart defects, hearing impairment, feeding difficulties, gastroesophageal reflux, severe constipation, renal and urologic abnormalities, recurrent respiratory infections, and dental abnormalities.

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