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Kabuki syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Kabuki syndrome

Kabuki syndrome is a multisystem disorder named for its characteristic facial features, which resemble the makeup used in traditional Japanese Kabuki theater.

Overview

Kabuki syndrome affects many parts of the body and is characterized by a specific set of facial features, developmental delays, and skeletal abnormalities.

Symptoms

Key clinical features include:

  • Facial Features: Long eyelid openings with everted lower lids, arched eyebrows, a flat nasal tip, and large, protruding earlobes.
  • Developmental/Neurological: Mild to severe intellectual disability, developmental delay, seizures, microcephaly (small head size), and hypotonia (weak muscle tone).
  • Skeletal/Physical: Short stature, scoliosis, short fifth fingers, and joint problems.
  • Other: Cleft palate, dental abnormalities, prominent fetal finger pads, heart abnormalities, frequent ear infections, and early puberty.

Causes

The syndrome is caused by variants in the KMT2D or KDM6A genes. These genes produce enzymes that act as histone methyltransferases or demethylases, which modify histones—proteins that package DNA. By regulating gene activity through methylation, these enzymes are essential for normal development. Variants in these genes lead to a loss of functional enzyme, disrupting developmental processes.

Inheritance

Inheritance depends on the gene involved:

  • KMT2D variants: Inherited in an autosomal dominant pattern.
  • KDM6A variants: Inherited in an X-linked pattern. In females, one altered copy is sufficient to cause the disorder; in males, the single copy on the X chromosome is affected.

Most cases result from a de novo mutation and occur in individuals with no family history of the disorder.

Frequently Asked Questions

Regular height and weight measurements every 3–6 months are essential, as short stature is typical. Bone age X‑rays help assess growth potential. Because precocious puberty can occur, check Tanner staging annually after age 7 in girls and age 9 in boys, and obtain hormone levels if signs appear early. Early endocrine referral may allow treatment with GnRH analogues to preserve final adult height.
Congenital heart defects such as ventricular septal defects, atrial septal defects, and coarctation of the aorta occur in up to 30 % of patients. An echocardiogram is recommended at diagnosis and repeated before school age or if new murmurs, fatigue, or respiratory symptoms develop.
Coordinate care with a multidisciplinary team: a pediatric otolaryngologist for palate repair timing, a speech‑language pathologist for feeding strategies, and a dietitian for high‑calorie, easy‑to‑swallow foods (e.g., thickened purees, fortified milk). Use specialized bottles or nipples that require less suction, and consider a nasogastric or gastrostomy tube if weight gain remains inadequate.
KDM6A is X‑linked. A mother who carries the mutation has a 50 % chance of passing it to each child—sons who inherit it will be affected, daughters may be carriers or mildly affected. If the mutation arose de novo in the affected child, the recurrence risk for siblings is low (<1 %). Prenatal carrier testing or pre‑implantation genetic diagnosis can be discussed with a genetic counselor.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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