What is Kabuki Syndrome?

What Is Kabuki Syndrome?
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?

Kabuki Syndrome cannot be diagnosed at this stage by blood tests. 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

Who is Supporting Aussie Kids with Kabuki Syndrome?

We are a registered not for profit charity who support families/caregivers who have a child with Kabuki Syndrome. While the name suggests that support is for Australians, more than half of our members are from around the world.

Our Key Objectives:

• To celebrate the achievements of all KS children
• To support families/caregivers by offering information, friendship and contact with other families
• To provide information to the public; raise awareness. To provide information to the educational and medical sectors to increase awareness and aide in earlier diagnosis
• To support the siblings of KS children giving an opportunity to talk with other siblings in similar situations
• The SAKKS website offers instant contact and information to families newly diagnosed and to professionals who seek information to better help children with Kabuki Syndrome and facilitate information sharing

Please visit www.sakks.org for further information.

 

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