Kabuki Syndrome is a rare genetic condition that occurs in approximately 1:32000 births.

There are many features which can occur in Kabuki Syndrome but not all are seen in every child.

Some of the features include:

• Arched, interrupted eyebrows
• Long palpebral fissures (the distance from the inner to outer corners of the eyes)
• Large and low-set ears
• Depressed nasal tip
• Short stature
• Skeletal abnormalities such as short fingers, loose joints
• Intellectual disability
• Cleft lip and palate
• Cardiac abnormalities
• Urogenital and kidney problems
• Anorectal and intestinal problems
• Immune abnormalities
• Ear infections and hearing loss
• Hypotonia

How is Kabuki Syndrome Diagnosed?

A geneticist will diagnose Kabuki Syndrome based on a distinctive pattern of characteristics:

• Facial Features - High arched interrupted eyebrows, long eyelashes and palpebral fissures, large ears, depressed nasal tip
• Intellectual challenges - Intellectual disabilities ranging from mild to moderate
• Finger tip pads - Prominent finger tip pads
• Short stature - Postnatal growth deficiency
• Skeletal abnormalities

In many children with Kabuki Syndrome medical problems are present at birth, and medical staff will instigate an appointment with a geneticist for diagnosis. For some children who do not present with major medical problems at birth, over time, it may be the parents who notice that their child is not developing normally and mile stones are not being met, often leading parents to seek advice from medical professionals. Once a diagnosis of Kabuki Syndrome is made the Geneticist will refer the child to other professionals for review or ongoing care.

Treating Kabuki Syndrome

There is no cure for Kabuki Syndrome but there is a lot that can be done to ensure good health in a person with Kabuki Syndrome, and to make sure that each person with Kabuki Syndrome achieves their full potential. Professionals involved with persons with Kabuki Syndrome can include:

• General practitioner
• Paediatrician
• Geneticist
• Neurologist
• Urologist
• Gastroenterologist
• Ophthalmologist
• Endocrinologist
• Cardiologist
• Ear, Nose and Throat Surgeon
• Occupational Therapist
• Speech Pathologist
• Physiotherapist
• Dietician

Reference: American journal of Medical Genetics 127A:118-127 (2004)
Reviewed by: Dr Sue White—Clinical Geneticist, 2008.
Reviewed by: Dr Tiong Tan—Clinical Geneticist, 2010.