Disorder Zone Archives

 

Kabuki Syndrome

Introduction

Kabuki syndrome (KS), a genetic disorder characterized by unusual facial features, skeletal abnormalities, and intellectual impairment, was first described in 1980 by Dr. Niikawa and Dr. Kuroki. KS was originally known as Kabuki Make-up syndrome due to the resemblance of the KS facial features and the make-up used in traditional Japanese theatre.

The cause of KS is not known, however, it tends to be an isolated occurrence within families (there have been, however, a few cases where the syndrome was inherited as an autosomal dominant trait). Although KS appears to be genetic in etiology, little or no genetic abnormality has been established. Chromosome abnormalities have occurred in only a small number of individuals with KS.

KS is a rare disorder with only 150 cases known worldwide. However, as more geneticists become aware of the syndrome, it is expected that the number of cases will greatly increase. KS is found equally in males and females and occurs in all ethnic groups.

 

Features and Characteristics

Not every individual has all the characteristics associated with KS, however, following is a list of traits that have been identified:

• Long fissures of the eyelids
• Eversion of the lateral lower eyelids
• Arched eyebrows
• Long eyelashes
• Blue sclerae
• Strabismus or nystagmus
• Ptosis of the upper eyelids
• Bulbous and/or flat nasal tip
• Large malformed ears
• Preauricular fistula
• Wide-spaced and irregular teeth
• Cleft lip and/or cleft palate or lip pits
• Joint laxity
• Hypotonia
• Skeletal anomalies (shortness of 5^th finger and toes, deviation of fingers and deformed vertebrae or ribs)
• Scoliosis
• Hip dislocation
• Dislocation of the kneecap
• Postnatal growth retardation
• Microcephaly
• Developmental delay (mild to moderate)
• Congenital heart defects
• Diminished immunity
• Kidney or urinary tract anomalies
• Persistent fetal fingertip pads
• Feeding difficulties
• Seizures
• Early breast development in females
• Recurrent ear infections
• Frequent respiratory infections
• Sensory integration dysfunction (tactile defensiveness)
• Sleep disturbances
• Hearing loss

 

Diagnosis

The features commonly seen in individuals with KS seem to evolve over time, making a diagnosis in infancy very difficult. Once the features can be identified, a clinical diagnosis can be made by a geneticist.

 

Treatment

There is no cure for Kabuki syndrome, therefore, treatment is based on managing the symptoms.

• Speech problems are commonly seen in children with KS, therefore, speech therapy is an important service for the child with KS. For those whose speech is more severely affected, sign language may used in conjunction with verbalization.

• Some children with KS have been found to be tactile defensive. For these children, sensory integration therapy can be used to improve their tolerance to different touch sensations.

• As most children with KS are hypotonic (affecting their gross and fine motor skills) and they tend to have joint laxity, physical and occupational therapy is typically beneficial.

• For those children with hearing loss due to bone abnormalities, surgery or hearing aids are used. In addition, for those children with frequent ear infections, ear tubes may be necessary.

 

What to Expect

The abilities in children with KS vary greatly. Most children with KS have a mild to moderate intellectual impairment. Some children will be able to follow a regular education curriculum, while others will require adaptations or modifications to their schoolwork. Many older children have learned or are learning to read at a functional level. Math skills vary and printing skills are typically delayed. The lifespan of individuals with KS is not expected to be shortened.

 

Personal Stories

Christopher is now 4 years old. He was born prematurely at 31 weeks by an emergency C-section because he stopped moving. He spent 11 weeks in the NICU. The doctors discovered he had a very large ventricular septal defect (hole in the heart), a cleft of the soft palate, a sacral dimple and dimples behind both ears. At 4 weeks of age, he had a band placed around his pulmonary artery which enabled him to be taken off the ventilator. With this, he was able to grow big enough to close the hole in his heart, when he was 15 months old. In his 1st year of life, he had many surgeries: two heart surgeries, cleft repair, a G-tube inserted because of severe feeding problems and reflux, bilateral hernia repairs, both testes brought down, and three sets of ear tubes for recurrent ear infections.

Chris has global developmental delays. He is mobile and loves playing on the playground and climbing big hills. He is able to say a few words, use a few signs, and occasionally will use pictures to let us know what he needs. Christopher has difficulty using his hands, so sign language has been difficult (all signs are very grossly done). He is extremely motivated by the computer and music. Chris still has feeding problems and needs his G-tube. He will not accept any textures; only smooth purees. He mouths everything but food, and drools excessively.

Chris is currently in an outreach program in the public schools four half-days a week. He receives occupational, physical, and speech therapies. Chris truly loves school and has made many strides. On Sundays, he attends Sunday School with the assistance of a helper.

Christopher is an extremely loving and sensitive little boy. He is very devoted to his little sister. They laugh, cry and torment each other like most siblings. He has brought a lot of joy into our lives. Chris has taught us how to appreciate the little things that we often overlook. I love my son tremendously and would not trade him for anything in the world. - Robin Brooks

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Kabuki Syndrome, the following listserv is available:

Kabuki Syndrome Network e-mail list - To subscribe, click here: http://www.onelist.com/subscribe/KSN_L

For more information on Kabuki Syndrome, please see the following references:

• Kabuki Syndrome Network http://www.dlcwest.com/~kabuki
• Ann Haskins Olney, MD, G. Bradley Schaefer, MD, Peg Kolodziej, MS, From the Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska. Kabuki Syndrome, Ear, Nose & Throat Journal 77(9):734, 1998
• National Center for Biotechnology Information - OMIM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147920

 

The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.

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