PSN Issue
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
or email Peta on petal@sakks.org
Disclaimer: All information on this site is of a general nature and is furnished for knowledge and understanding only.