Kabuki syndrome (Niikawa-Kuroki 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.

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare genetic disorder, named for the perceived resemblance of its characteristic facial features to the makeup traditionally used in Kabuki theatre. The inheritance pattern depends on the underlying genetic cause and may be autosomal dominant or X-linked. Most cases appear to arise de novo, although inherited cases occur. The phenotype may overlap with Au-Kline syndrome, particularly in its characteristic facial features and neurodevelopmental impairment, but these conditions are genetically distinct. The presence of characteristic limb and genitourinary abnormalities may favor Au-Kline syndrome over Kabuki syndrome. A distinctive presentation of Kabuki syndrome may include the combination of long palpebral fissures with eversion of the lateral third of the lower eyelids and prominent fingertip pads.

It can present with psychiatric features such as ADHD or hyperactivity, anxiety, behavioral dysregulation, sleep disturbance, and self-injurious behavior. Autism spectrum disorder (ASD) has also been reported, although it appears to be relatively uncommon. Individuals are often described as pleasant and outgoing, which may provide a useful behavioral clue. Cognitive impairment, developmental delay, and speech and language impairment are common, with intellectual disability usually in the mild-to-moderate range.

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

  • Epicanthus

  • Ptosis

  • Ectropion

  • Large (ear)lobes

  • Preauricular pit

  • Cleft palate (including submucous cleft palate)

  • Short metacarpal – third, fourth and/or fifth

  • Prominent fingertip pads

Other characteristic features include hypotonia, postnatal growth deficiency, and skeletal abnormalities, including scoliosis, vertebral abnormalities, joint hypermobility, and recurrent patellar dislocation. Neurologic manifestations may include seizures/epilepsy. Ophthalmologic manifestations may include strabismus, while hearing impairment is common. Additional reported features include congenital heart defects, cleft lip and/or palate, dental abnormalities, renal and genitourinary abnormalities, feeding difficulties, gastrointestinal abnormalities, increased susceptibility to infections and autoimmune disorders, and endocrine abnormalities, including hyperinsulinism and premature thelarche.

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