Kabuki Syndrome Diagnosis
Kabuki syndrome is a rare paediatric congenital disorder affecting roughly one in 32,000 births. Kabuki syndrome is idiopathic in nature, meaning, that this congenital disorder has no known cause. It is hypothesised that this syndrome occurs as a result of an underlying genetic origin.
Kabuki syndrome was first identified and described in 1981 by leading Japanese scientists, Niikawa and Kuroki. The name ‘Kabuki syndrome’ derives from the facial resemblance of affected individuals with that of white Kabuki makeup which is worn in traditional Japanese theatre.
Kabuki Syndrome Features
Kabuki syndrome is characterised by hypotonia (low muscle tone); microcephaly (small skull); as well as bone abnormalities including short fingers, webbed fingers, spina bifida and scoliosis. Hypotonia may lead to difficulties achieving motor developmental milestones such sitting, crawling and walking. Low muscle tone may also contribute to problems with early feeding and oral motor coordination.
Facial characteristics include cleft or high arched palate, misaligned teeth, arched eyebrows, wide-set eyes, thick eyelashes, flat nasal tip, large ears and a small mouth and/or jaw. Other key symptoms may include endocrine problems such as hypothyroidism; heart defects; kidney and urinary tract problems; seizures; and early onset of puberty. Patients born with Kabuki syndrome more often than not suffer from hearing loss/problems with recurrent ear infections occurring quite frequently in infancy.
Speech Therapy To Help Communication
Children born with Kabuki syndrome often have difficulty with early feeding due to hypotonia (low muscle tone). Articulation and phonological errors may occur mainly due to poor oral-motor coordination, hypotonia and cleft-palate. Intellectual disability is a common feature, as well as behavioural difficulties. Receptive language is generally greater than expressive language skills. As a result of difficulties with feeding and language, children born with Kabuki syndrome will often require early intervention from a Speech Pathologist to maximise communication and assist with early feeding difficulties.
Contact us for results focused speech therapy in Sydney
This article was written by our Speech Pathologist Eugene Pillay who is a Speech Pathology Australia member.
If you have questions about speech therapy for people with kabuki syndrome, contact your local doctor, who will arrange for you to see a speech pathologist. Contact us today!
- State Government of Victoria (2013). Kabuki syndrome. Victoria, Australia: Victorian Clinical Genetics Services (VCGS). Retrieved on 25/07/13 from Better Health Channel
- Malik, P., Sharma, A., Sakhuja, S., Munjal, S. & Panda, N.K. (2010). Speech and Language Characteristics in Kabuki Syndrome – A Case Report. Click here.