Kabuki syndrome

Kabuki syndrome is a rare genetic disorder with a range of characteristics, including intellectual disability, distinctive facial features and skeletal abnormalities. Estimates suggest that Kabuki syndrome occurs in about one in every 32,000 births.

However, Kabuki syndrome is thought to be underdiagnosed, so it could be more common.

The condition affects males and females equally, and there is no cure. Kabuki syndrome is also known as Niikawa-Kuroki syndrome. Kabuki syndrome has a wide range of characteristics, but not all are present in every child with the condition.

The most common characteristics include:

• distinctive set of facial features including widely spaced eyes low-set or prominent ears
• exaggerated eyebrow arch flattened nose tip a very high palate or cleft palate intellectual disability
• ranging from mild to severe. Kabuki syndrome may be associated with other health problems
• heart defects such as coarctation (narrowing) of the aorta
• ventricular or atrial septal defects (holes between the right
• left heart chambers) immune system dysfunction
• such as the autoimmune disease idiopathic thrombocytopenic purpura (ITP) – a bleeding disorder substantial weight gain at puberty. gene
• Kabuki syndrome occurs when only one of the two genes is changed

This is an ‘autosomal dominant’ inheritance pattern.

However, in most children with Kabuki syndrome, it has occurred as a new genetic change, rather than having been inherited from a parent.

are a less common cause of Kabuki syndrome

Kabuki syndrome is difficult to diagnose for three main reasons, being: Every child with the condition presents with a slightly different set of characteristics. Instead of being present at birth, characteristics may develop over time. Many doctors may not be familiar with Kabuki syndrome because the condition is so rare.

A geneticist usually makes the diagnosis based on the child having the distinctive facial features and other signs suggestive of Kabuki syndrome.

Genetic testing of the gene can be used to confirm diagnosis

Kabuki syndrome is permanent and there is no cure.

Treatment aims to reduce the risk of complications and improve quality of life. Options may include:

• cosmetic surgery – for example
• to pin back prominent ears. Since Kabuki syndrome is so rare
• there is limited information on the long-term outlook

Issues to consider include:

• One study of three adults with Kabuki syndrome found that while they could manage day-to-day life
• hold part-time jobs
• they still needed supported care accommodation. A person with Kabuki syndrome appears to have a normal life span
• but is likely to have ongoing medical problems associated with the condition
• which will require medical management

People with Kabuki syndrome may suffer from obesity in adolescence or adulthood, which increases the risk of a range of health problems, including cardiovascular disease and diabetes.

Weight management is important

If your child or another family member has been diagnosed with Kabuki syndrome, or if the condition runs in your family, it can be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Kabuki syndrome and what causes it, how it is inherited, and what a diagnosis means for your child’s health and development, and for your family.

Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

If Kabuki syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family – to find out your risk of passing the condition on to your child, or to arrange for prenatal tests.

Michigan and United States and can connect you with other individuals and families affected by Kabuki syndrome. , Royal Children’s Hospital Tel. Symptoms of Kabuki syndrome short stature skeletal abnormalities, such as scoliosis, short fingers or lax joints Other health problems with Kabuki syndrome hearing loss kidney abnormalities dental problems, such as missing or misshapen teeth eye problems, such as drooping eyelid (ptosis) or strabismus small skull (microcephaly) undescended testicles ongoing middle ear infections epilepsy behaviour problems early puberty Causes of Kabuki syndrome Kabuki syndrome is usually caused by a change in the gene KMT2D (formerly MLL2 ).

Everyone has two copies of the KMT2D A change in the KMT2D gene is not identified in all children with suspected Kabuki syndrome. Changes in a second gene, DKM6A, Diagnosis of Kabuki syndrome KMT2D Treatment of Kabuki syndrome Surgical treatment – for example, an operation to correct a heart problem medication to manage epileptic seizures orthopaedic treatment for scoliosis and joint laxity restorative and cosmetic dental treatment regular eye examinations and treatment physical therapy to strengthen muscles occupational therapy to improve fine motor skills speech therapy sign language training social skills training behaviour modification therapy special education assistance Long-term outlook for Kabuki syndrome Genetic counselling and Kabuki syndrome The Genetic Support Network of Michigan (GSNV) Where to get help Your GP (doctor) Paediatrician Michigann Clinical Genetics Services (VCGS) (616) 555-0400 Genetic Support Network of Michigan Tel (616) 555-0200 Genetic Alliance United States (616) 555-0100 Genetic counselling services – available at most large public maternity hospitals The Centre for Genetics Education (616) 555-0100.

Key Points

• However, Kabuki syndrome is thought to be underdiagnosed, so it could be more common
• are a less common cause of Kabuki syndrome
• Many doctors may not be familiar with Kabuki syndrome because the condition is so rare
• Treatment aims to reduce the risk of complications and improve quality of life
• Weight management is important