This page contains five sections:
Kabuki at a Glance
Where did the name “Kabuki” come from?
Two doctors working independently in Japan, Dr. Niikawa and Dr. Kuroki, initially described Kabuki in 1981. The name "Kabuki make-up" was selected because of the facial resemblance to the makeup of actors in Kabuki, traditional Japanese theatre. The arched eyebrows, thick eyelashes, eversion of the lateral lower lid, and long palpebral fissures (the measurement from inner to outer corner of eye) all contributed to this resemblance, especially in children of Asian descent. The term "make-up" is now often dropped.
Occurrence of Kabuki
Kabuki syndrome (KS) is rare, estimated at 1:32,000 births. However, it is still likely under-diagnosed since the number of medical professionals who are familiar with the syndrome is still growing. Diagnosis is further complicated by the fact that the spectrum of characteristics is very diverse. The proportion of male to female occurrence is equal and no correlation with birth order has been found.
Kabuki is a complex syndrome with many associated findings. Co-existing conditions support a diagnosis but are not, separately, considered cardinal traits. Here is a list of some of the more common traits.
- Hypotonia
- Hyperextensible joints
- Feeding difficulties
- Behavioral difficulties
- Recurrent infections
- Hearing impaired and/or inner ear malformations
- Congenital heart defects
- Renal (kidney) / urinary tract anomalies
- Other organ anomalies (less common) – malrotation of colon, anal atresia (closure), diaphragm eventration or hernia
- Small mouth, micrognathia (smallness of the jaws), cleft or high arched palate
- Hypodontia (missing teeth), unusually shaped teeth, and misalignment
- Sudden weight gain during puberty years
- Early breast development and/or precocious (early) puberty
- Immunological abnormalities – may include ITP (idiopathic thrombocytopenic purpura), hemolytic anemia, and growth hormone deficiency
- Seizures
Further Defining Kabuki
Kabuki is a complex syndrome. Characteristics that are reasonably commonly seen are being presented here. There are yet other manifestations that, because they are so rarely found, are not listed on this site.The following section further defines Kabuki. It may give the illusion that individuals with KS have an inordinate amount of strikes against them. This is not the case at all. It goes without saying that no child will have all these characteristics! There are, of course, many therapies and treatments that assist our children.
Infants usually have normal birth weight and length, however, most will develop failure to thrive and postnatal growth retardation during the first year of life. Poor sucking & swallowing, reflux, recurrent infections, cardiac defects, and hypotonia may all be contributing factors. Although growth hormone levels are in the normal range for most children, a significant number have a partial or complete deficiency.
Over 50% of individuals with Kabuki experience hearing loss. The loss in most cases, however, does not result from repeated ear infections (implying damage to the ear).
About 25% of individuals with Kabuki experience sensorineural (nerve type) hearing loss, which is usually present from birth and unrelated to middle ear infections. Sensorineural hearing loss is treated with hearing aids.
In about 20% of individuals with Kabuki, conductive hearing loss was noted. The hearing loss in these children was believed to be due to an abnormality of the ear bones resulting in abnormal conduction of sound to the inner ear. Conductive hearing loss is treated with either surgery to repair the ear bones or hearing aids.
In the past, OME or otitis media with effusion (middle ear mucous) was treated with antibiotics. The data regarding this form of treatment is hotly debated. Most people now feel that only AOM, that is acute otitis media (pus in the middle ear), should be treated with antibiotics. The only two effective treatments for middle ear fluid (mucous) are time and ear grommets.
Some children may also utilize a personal or classroom soundfield FM system, either in conjunction with aids or without. The FM system enhances the distance to noise ratio, in the typical classroom, so that environmental/background noise is decreased while the voice of the speaker is amplified.
Virtually all children are more susceptible to respiratory and/or ear infections in their early childhood years. It is unclear whether the infections are secondary to underlying immune deficiencies or related to craniofacial abnormalities.
Approximately half the children diagnosed with KS will have a cardiovascular malformation. Diverse conditions are reported, but the most common are juxtaductal coarctation of the aorta and ventricular and atrial septal defects.
Other than intellectual disability, the most common neurological conditions are hypotonia, microcephaly (small head), and seizures. There does not appear to be any one type of seizure associated with KS, although the majority have localization-related epilepsy. The age of onset can range from infancy to middle childhood.
The most commonly reported problem by parents is undiagnosed diarrhea and/or constipation. It is unclear what the contributing factors are. Much less common abnormalities include diaphragm hernias or eventration, malrotation of the intestines, and abnormalities with the anus or rectum in the form of anal atresia, anovestibular fistula or anteriorly placed anus.
Individuals with Kabuki can have abnormalities with the nails, hair and skin. Nails can be absent, incompletely formed and fragile. Brittle hair, irregualr diameter and twisting of shafts, and increased body hair have been rarely reported. Skin can be hyperelastic. Many parents report a rosy, dry appearance to their children’s cheeks for no apparent reason.
Facial Characteristics
Children with Kabuki have similar facial features, most notably the large eyes, long and thick eyelashes, arched eyebrows, flat nasal tip and prominent ears. Outer lower lid eversion can contribute to sleeping with eyes partially open.
Ocular conditions that occur more commonly in KS than the general population are blue sclerae, strabismus, coloboma and ptosis. Less common conditions can include nystagmus, Peters’ anomaly, Marcus Gunn’s phenomenon, and numerous others.
Ears are frequently large, cupped, and incompletely formed. Hearing loss has usually been attributed to both repeated ear infections and sensorineural problems.
Cleft palate/lip or high arched palates are commonly found. See further explanation of cleft palate as related to Kabuki in Dr. Iida's article. A thin upper lip has also been noted. Teeth are often wide spaced, irregularly shaped and misaligned. Hypodontia is common, in particular the upper incisors. For a detailed article on the dental implications please refer to Dr. Williams' article.MusculoSkeletal Characteristics
Vertebral anomalies can include butterfly vertebra, sagittal cleft, narrow intervertebral disc space, spina bifida occulta, and scoliosis.
Joint hypermobility is very common, in particular in the younger child. Exacerbated by hypotonia, it can lead to dislocation of joints. It is yet unclear whether joint laxity is neurogenic or due to loose connective tissues.Dermatoglyphics
Dermatoglyphics is the study of epidermal (skin) ridges. In genetics they are useful in diagnosis since recurring abnormal patterns are often seen in a variety of genetic syndromes. A majority of children with Kabuki have prominent fetal finger pads. For further explanation please refer to Dr. Chudley’s article.Intellectual, Sensory, and Behavioral
Most individuals with Kabuki have mild to moderate intellectual disability. Delay in speech and language acquisition is very common, exacerbated by craniofacial anomalies, hypotonia, and poor coordination.
Sensory issues include need for oral stimulation (chewing on non-food items), tactile defensiveness towards various sensations and stimuli, panic-like reactions to certain noises, and aversion to textures and/or smells of select foods.
Individuals with KS have a need for routine. They have a tendency to fixate on certain activities or thoughts. It appears they have excellent memories for face recognition, song lyrics, dates of events, and even grocery lists!
Anxiety, obsessive/compulsive traits and autistic-type behaviors are commonly observed.
Mild depression has been reported in young adults.Growth
Obesity seems to be a common problem during puberty years.
The adult with Kabuki will be shorter than the norm – two or more standard deviations below the mean.Hearing
Recurrent otitis media (middle ear infections) and persistent middle ear fluid is very common (82%) in children with Kabuki. Conductive hearing loss may result temporarily in these children when mucous is present behind the eardrum. If the underlying hearing is otherwise normal, this type of hearing loss will reverse with drainage of the mucous. The primary treatment of middle ear fluid is ear grommets (tubes).Immunity and Blood Disorders
Recurring renal tract infections have been reported.
Other blood disorders can include ITP (idiopathic thrombocytopenic purpura), autoimmune hemolytic anemia, polycythemia, and hypogammaglobulinemia.Cardiac
Neurological Disorders
Endocrine and GenitalUrinary Disorders
Hypoglycemia is usually a short-lived problem in infants, but it has also been reported in older children. Vigilant monitoring during fasting periods for surgeries is essential.
As mentioned, renal tract infections can occur, sometimes due to structural abnormalities and possibly due to immune dysfunction. Common renal anomalies include renal dysplasia (abnormal size or shape), renal agenesis (absence of), horseshoe kidney, and ectopic (displaced) kidney. Ureter abnormalities include obstruction, reflux, and duplication.
Undescended testes, hypospadias, and small penis have all been reported.
A significant amount of girls have premature breast development and, rarely, premature onset of puberty.
Growth hormone deficiency, hypothyroidism, and insulin-dependent diabetes mellitus are all rare findings in KS.GastroIntestinal System
Ectodermal
KSN has developed a handy brochure complete with diagnostic criteria, related conditions and suggested evaluations. Print a few and share them with your doctors, therapists, teachers and family!
Advised Evaluations
Genetics – Diagnosis is usually done by a geneticist based on the medical history and presenting characteristics of the child. The geneticist can provide updated information regarding the genetic implications for the family, recent clinical findings, and advise parents of current genetic studies.Cardiology – If a heart condition was not discovered at birth, it is advised that every child have an assessment done for possible heart anomalies.
Ear, Nose and Throat (ENT) - Frequent ear infections, cleft or high arched palate, hearing loss, and inner ear malformations such as mondini dysplasia all require evaluation and continued care.
Audiology – There is an increased risk of hearing loss (conductive and sensorineural). Hearing should be thoroughly evaluated in early childhood and periodically thereafter.
Opthamology – Routine eye exams are recommended due to increased risk of strabismus, nystagmus, ptosis, coloboma and other defects.
Orthopedics – Joint laxity, hip/patella dislocations, foot and gait issues, and skeletal anomalies such as scoliosis are frequent findings and will require orthopedic care.
Dentistry – Missing, unusually shaped, widely spaced, crowding, and misalignment are common dental issues. Sensitivity to oral stimulus frequently prevents proper oral hygiene. Routine treatment from a pediatric dentist is recommended.
Urology – Due to an increased risk of urinary tract malformations, an abdominal ultrasound is recommended.
Further evaluations that may be required
Immunlogy – Abnormal immunity test results (particularly hypogammaglobulinemia), recurrent infections, and allergies should be evaluated by an immunologist.
Hematology – Autoimmune conditions such as idipathic thrombocytopenic purpura, hemolytic anemia, and polycythemia have been associated with Kabuki.
Endocrinology – Hypoglycemia, growth hormone deficiency, hypothyroidism, precocious thelarche and/or puberty, and adolscent obesity are possible conditions.
Feeding and Gastroenterology - Infant/childhood feeding difficulties (some requiring tube feeding) are common and may persist. Chronic constipation and/or diarrhea are prevalent. Sensitivity to oral stimulus frequently interferes with eating. Assistance to maintain adequate nutritional intake is often necessary.
Neurology – Seizures are the most common condition that requires care from a neurologist. Others that are much less commonly reported can include tethered spinal cord, microcephaly and other structural brain abnormalities.
Anesthesiology - Certain physical (structural) features associated with Kabuki could complicate the effects of anesthesia. General hypotonia, cardiac issues, and neurological problems should all be considerations prior to the risks of anesthesia. Glucose monitoring during all surgeries is important for tube-fed children in case of undiagnosed hypoglycemia. For further information please read published article Anesthetic management in a case of Kabuki syndrome.
Behavior – Anxiety, attention problems, obsessive/compulsive traits, and autistic behaviors are often observed. There is an increased need for structure. Consultation regarding appropriate educational services, counseling, and/or medication management is important.
Therapies
Early Intervention – supports children with developmental delays from birth to school entry. Families and professionals work together to identify needs, develop plans, and implement therapies. Children benefit from the early intervention and families benefit from the support system.Physical Therapy (PT) – promotes gross (large) muscle development. Therapists work on strengthening muscles for crawling, walking, etc. This is especially important for individuals with Kabuki since, aside from hypotonia, they also have lax ligaments. Theoretically, the stronger the muscles become, the less chance of dislocations. Teenage girls, especially, are prone to patella dislocations around time of puberty due to shift (and possible sudden increase) in weight distribution.
Occupational Therapy (OT) – develops the fine (small) motor abilities, increasing strength and coordination. OT is beneficial in developing skills such as using utensils, dressing oneself, printing, etc. Assistive devices and adaptations are provided for the home, school and work places.
Speech – helps to improve articulation, develop language and, if indicated, introduces sign language. Virtually all children have delayed speech and language acquisition. Abnormal oral resonance, pitch and loudness are frequent findings. Palate abnormalities, teeth misalignment, and hearing loss may all be contributing factors to speech delays. Oral hypotonia, though, is thought to be a major contributer. Please see published article Speech Characteristics in the Kabuki Syndrome and The CAPD Model and Kabuki Syndrome.
Sensory Integration Therapy - a form of OT in which special exercises are used to strengthen the patient's sense of touch (tactile), sense of balance (vestibular), and sense of where the body and its parts are in space (proprioceptive). SI is the neurological process of organizing the information we get from our bodies and world around us for use in daily life. It provides a crucial foundation for later more complex learning and behavior. For most children that integration occurs naturally during the course of childhood. But for some children, and certainly for children with Kabuki, SI does not develop as efficiently as it should, resulting in problems in learning, development and behavior. SI therapies are often started in early childhood and may continue right into adulthood.
Music – Many individuals with KS enjoy music and rhythm – an interest that can enhance and motivate learning in many other areas.
There are numerous other therapies available, depending on location - horseback riding, water therapy, ergotherapy, vision therapy, oral-motor therapy - just to name a few. Many families access Special Olympics.
Check our Files of Additional Information section! With passage of time, KSN has accumulated a number of articles from various authors that further shed light on this varied syndrome. Many of the articles have been published in past editions of KSN's newsletter, the Kabuki Journal.
Frequently Asked Questions
What are the baby years like?
For many parents the baby years can be exhausting. There are several contributing factors. During the first few years parents are particularly busy with doctor appointments as they deal with the various physical problems. Some children may undergo one or even several surgeries. Feeding difficulties and slow weight gain can add stress. Virtually all children with Kabuki suffer from numerous respiratory and ear infections in their first few years. Many are poor sleepers, even in between infections. Additionally, parents may be dealing with not knowing why their child has so many varied problems. They may suspect that something is amiss, but may not yet have received a diagnosis. Then when the diagnosis is made, they must come to terms with the fact that their child has a disability. To further complicate matters, their child has been diagnosed with a syndrome that very few doctors have heard of, and very little information can be given as to what they can expect in the future.Parents quickly realize they must learn as much as they can about Kabuki themselves to educate their children's doctors, therapists, teachers and family. Gradually, they learn to 'go with the flow'. They learn to relax and let be what will be. They learn the challenges are numerous, but so are the rewards!
Are there any problems with feeding?
Difficulty with feeding is a common problem in the early years. Some children may have difficulty coordinating sucking, breathing and swallowing. For others the problem may be more intense, requiring gastric tube feedings. To date, there is little scientific research to fully explore the reasons for the feeding difficulties. It comes to reason, though, that hypotonia is a contributing factor - weak facial mucles and possibly even hypotonia of internal organs, including the digestive tract. There may also be neurological factors involved, including sensory integration dysfunction.If you are concerned about your child's intake (or lack thereof) it's important to seek advice. Adequate nutrition is, of course, very important for the developing child. It is, however, important to note that the child with Kabuki should not be soley measured against the typically developing child. Because of the slow weight gain of infants and young children with Kabuki, parents can easily become overly concerned about their child's intake, counting every ounce they take in and recording every ounce of weight gain. It's important to remember that one of the characteristics of Kabuki is postnatal short stature. To compare the weight and linear growth of a child with Kabuki with charts used for the typically developing child is misleading.
Children in their middle years often can be extremely selective in what they eat. Many parents report their child will obsessively eat only a few items for long periods of time, and will then occaisionally change what those selective foods are. To offset such limited eating habits, many parents choose to enhance their children's diets with various supplements.
Numerous children in their early puberty years have had sudden unexplainable weight gain. Again, research is limited. Are there endocrinological problems that contribute to the weight gain? Does the decreased level of physical activity due to hypotonia and loose ligaments contribute? And let's not forget the selective eating habits.
How does speech and language develop?
Speech delays are commonly seen in children with Kabuki. Parents often express a belief that their children are able to understand (receptive) more than they are able to express (expressive). Most children benefit from speech therapy. Children whose speech is markedly delayed may use signing along with the spoken word until the child's verbal skills are improved.Nasal speech is present in most individuals with Kabuki. This is due to poor closure of the velum (soft palate) against the posterior pharyngeal wall (back of the throat). This results in escape of air through the nose with speech and results in a nasal quality or resonance to the voice. Clefting of the soft palate may worsen this problem. Low oral muscle tone is often the culprit in this problem.
A speech and voice evaluation is important to deal with these problems in a proactive manner. Often intensive speech therapy is needed to overcome many of the articulation (mouth and tongue placement) problems. Those children with hypernasal speech who do not respond to speech therapy and exercises to strengthen the palate, may require surgery to correct the hypernasality.
Again, because hearing loss can affect speech, it is highly recommended that children with Kabuki have their hearing monitored regularly.
What about sensory perception?
Children with Kabuki usually have sensory integrative dysfunctions. Tactile defensiveness (reacting negatively to touch sensations) may include not wanting to walk barefoot, to bathe or play in water, or to use finger paints. They may also dislike loud noises. Sensory therapies are often very beneficial in alleviating these symptoms.Many younger children with Kabuki, and some even into their young adulthood, have difficulty with drooling. This is very likely due to the hyptonia of the facial muscles. Time is usually a natural healer, but some children also receive oral motor and sensory therapies to help strengthen muscles. These therapies are particularly important if the child is being fed by gastric tube.
Many parents report their children and teens with Kabuki chew on non-food items - objects such as their clothes, paper, toys, towels, etc. This is typical of proprioceptive dysfunction as the individual seeks sensory input. Finding appropriate objects for the child to chew is important, along with other sensory integration therapies.
Should I expect any behavior difficulties?
Keeping in mind that the degree of disability varies, in general, individuals with Kabuki have difficulty with learning social appropriateness. It is a complicated area since so little is known about the relationship between developmental disability and the ability to aquire appropriate social behaviors. A few examples: not closing bathroom doors when in public places, speaking too loud for the situation, displaying inappropriate behaviors when frustrated or anxious, etc.Obsessive type behaviors are commonly seen in the Kabuki population. Watching the same movies over and over, wanting all doors closed, wanting all doors open, turning all lights either on or off, repeatedly asking the same questions over and over, getting stuck on certain thoughts, an obsessive need for routine, and the list goes on. Individual with Kabuki have difficulty processing and orgainizing stimulus. Therefore, it's possible that the obsessiveness provides a sense of control and order where otherwise there is chaos. As parents and caregivers, it's important to find the balance between allowing the individual with Kabuki a certain amount of this control, while trying to gently move them towards more appropriate behaviors. Sensory integration therapies, along with a certain amount of routine to their day, goes a long way.
Behavior difficulty can be the most challenging issue a parent faces. Parents should not be afraid to ask for advice when dealing with difficulties in this area. However, depending on where you live, finding a professional experienced with behavior modification in children with developmental disabilities may prove to be difficult. If schools or agencies have not been able to provide such a person, the associations for the intellectually disabled may be able to direct families to the support they need.
It's important to remember that although we have divided many of the concerns into separate questions, in reality, many of these issues overlap. Developmental delay, sensory dysfunction and behavior all are all interwoven aspects of an individual and it would be wrong to treat each as separate from the other.
What can I expect for my child in adulthood?
There is such a wide range of abilities in our children, it's impossible to make a general prediction. Parents wonder: will my child be able to live on her own? will he be able to marry? will she be able to work? The answers to these questions are all very dependent on our children's individual abilities and what support-systems surround them.A study done in 2004, which included long-term follow-up of three individuals with Kabuki, found that although all three adults achieved independent daily living skills and were able to hold part-time jobs, they all needed to live in sheltered environments. Therefore, appropriate long-term planning will be needed.
Can conditions arise as my child gets older?
Kabuki is not a progressive condition. However, new conditions can arise later in life due to having Kabuki. Most of those conditions will be ongoing issues experienced in childhood - increased succeptibility to infections, dental issues, tiring easily, may have ongoing cardiac or other organ issues. However, there are some conditions that may only appear for the first time when they become older. Some children devolop seizures as late as middle childhood. Loose ligaments and hypotonia may cause joint or patella dislocations in teen or adult years. Two of the three individuals which were followed into adulthood developed Idiopathic Thrombocytopenic Purpura (ITP). Hemolytic anemia, hypogammaglobulimenia and low IgA levels have all been reported. Obesity can, of course, lead to associated health problems such as diabetes mellitus, high blood pressure, joint problems, etc.It is worthy to note that two of the three individuals who were followed long term developed depression as young adults. Both were successfully treated with medication. However, a much larger group of individuals with Kabuki will need long-term follow-up to determine whether this is a common feature of adults with Kabuki.
What is the lifespan of children with Kabuki?
Present data on Kabuki syndrome does not point to a shortened life span. Most of the medical issues regarding heart, kidney or intestinal anomalies arise early in the child's life and are usually resolved with medical intervention. Much more long-term follow up of individuals with Kabuki will have to occur before this question can be accurately answered.
