Kabuki Syndrome
Also known as: Kabuki Make-up Syndrome, Niikawa-Kuroki Syndrome
Kabuki syndrome is a rare, multisystem disorder characterized by distinctive facial features (arched eyebrows, long palpebral fissures with eversion of the lateral portion of the lower eyelids, prominent ears), skeletal abnormalities, intellectual disability, and postnatal growth deficiency. Other common features include congenital heart defects, kidney abnormalities, and immune deficiencies.
Kabuki syndrome is a rare condition that makes kids look a little different, learn at a slower pace, and sometimes have problems with their heart, kidneys, or immune system. Doctors can help them with these problems so they can live happy lives.
Signs & Symptoms
- Distinctive facial features (arched eyebrows, long palpebral fissures, everted lower eyelids)
- Intellectual disability
- Postnatal growth deficiency
- Skeletal abnormalities (scoliosis, brachydactyly)
- Congenital heart defects
- Kidney abnormalities
- Immune deficiency
- Hearing loss
- Cleft palate
- Dental anomalies
Treatment Options
Growth hormone therapy
MODERATELY EFFECTIVESurgical correction of congenital heart defects
HIGHLY EFFECTIVEManagement of kidney abnormalities
SUPPORTIVEImmunoglobulin therapy
MODERATELY EFFECTIVEEducational and behavioral therapies
SUPPORTIVEHearing aids or cochlear implants
SUPPORTIVEPhysical therapy
SUPPORTIVESpeech therapy
SUPPORTIVEDiagnosis
- Clinical evaluation
- Physical examination
- Genetic testing (KMT2D, KDM6A)
- Radiological studies (X-rays, MRI)
- Echocardiogram
- Renal ultrasound
- Immunological assessment
History
Kabuki syndrome was first described independently by two Japanese researchers, Dr. Yoshikazu Niikawa and Dr. Norio Kuroki, in 1981. The name "Kabuki" refers to the traditional Japanese theater, as the facial features of affected individuals were thought to resemble the makeup of Kabuki actors.
Recent Breakthroughs
Novel therapeutic targets identified for Kabuki syndrome
Research has identified potential therapeutic targets for Kabuki syndrome by investigating the downstream effects of KMT2D and KDM6A mutations on gene expression and cellular function. These targets may lead to the development of new treatments aimed at improving cognitive function and other symptoms.
Improved diagnostic criteria for Kabuki syndrome
Refined diagnostic criteria for Kabuki syndrome have been proposed, incorporating genetic and clinical data to improve diagnostic accuracy and facilitate earlier diagnosis. This includes a scoring system based on key clinical features and genetic testing results.