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Kabuki Syndrome

Kabuki Syndrome

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Genetics Program

What is Kabuki syndrome?

If you're a parent with a child who has been diagnosed with this condition, chances are you may have never heard of it before. Most likely, that is because Kabuki syndrome was discovered relatively recently, around 1980 by two Japanese doctors, and it is very rare. It is a congenital condition (meaning a child is born with it) characterized by a wide range of symptoms including mild to moderate intellectual impairment and a host of generally mild physical anomalies, including a characteristic facial appearance that gives the condition its name. The arched eyebrows, wide set, elongated eyelids, thick eyelashes, flat nasal tip and prominent ears seen with this syndrome is said to resemble actors of Kabuki, a Japanese traditional theatrical form in which actors wear a particular style of make-up. In fact it was originally called "Kabuki make-up syndrome" but the term "make up" has since been dropped.

How common is Kabuki syndrome?

As noted above, the condition is very rare, estimated to occur in 1 out of every 32,000 births, according the Kabuki Syndrome Network. However, it is believed that the condition is likely under-diagnosed. This is in part because many medical professionals are unfamiliar with the syndrome, but awareness is growing. Even through it was discovered in 1980 in Japan, the first diagnosis made in both Europe and America occurred in 1990. The wide range of characteristics seen so far with Kabuki, some more subtle than others, make it even more difficult to diagnose. However, the good news is that there are a variety of therapies and treatments available for many of the problems commonly seen with KS.

What causes Kabuki syndrome?

At this point and time, the cause of Kabuki syndrome is not well understood, but it is believed to be an inherited disorder. However, no specific chromosomal abnormalities have been specifically linked to the condition.

What are the characteristics of Kabuki syndrome?

The following section lists the range of different kinds of problems that are sometimes seen in children with Kabuki syndrome. Although there is a wide range of characteristics affecting many systems of the body, no one child will have all of the characteristics listed below.

Eyes

In addition to arched eyebrows, wide set eyes, elongated lids and thick eyelashes, children with KS may have ophthalmic problems such as a droopy upper eyelid (ptosis), misaligned eyes (strabismus), and long fissures of the eyelids (the measurement from the inner corner of the eye to the outer corner), a cleft of the eye, known as coloboma and sometimes nystagmus (a rapid, involuntary oscillating of the eyes).

Ears/hearing

Some children with KS have large, curved, sometimes incompletely formed ears. Frequent ear infections associated with KS and problems with auditory nerves can lead to hearing loss in some children.

Mouth

Cleft lip and palate are often seen in children with KS. These are birth defects in which tissues of the lip or mouth don't form properly during fetal development. A cleft lip appears as a narrow opening in the skin of the upper lip that extends all the way to the base of the nose. A cleft palate is an opening between the roof of the mouth and the nasal cavity. Children with KS could also simply have a high arched palate. Dental problems including less than the normal amount of teeth and/or teeth that are widely spaced apart, misaligned or irregularly shaped can also occur.

Musculoskeletal

Some children with KS can be born with short fingers, particularly the fifth finger, mild webbing between fingers (syndactyly), irregularly shaped vertebrae, mild spina bifida and/or scoliosis. Weak muscle tone, known as hypotonia, is a common problem among children with KS, as well as hypermobility of the joints. It is believed that the combination of these two problems is to blame for frequently seen joint dislocations of the hip, knee or shoulders in children with KS.

Cardiac

Children with KS may be born with heart abnormalities including malformations of the aorta and/or openings in the walls that separate the ventricular or atrial chambers of the heart (atrial or ventricular septic defects).

Cognitive and sensory function

Most children with KS have mild to moderate intellectual disability and many exhibit some of the behavioral traits seen in children with autism. They may seem at times anxious and panic, for instance, in response to certain noises. They may dislike certain stimulation and textiles and have aversions to certain food smells. Some may seem to have a need for oral stimulation and chew on non-food substances.

Neurological problems

The most common neurological problem is an intellectual disability. However, some children develop seizures anywhere from infancy to middle childhood.

Growth problems

During the first year of life, babies with this condition have a lower than normal growth rate that is believed to be caused by poor sucking and swallowing, reflux and cardiac problems. Most adults with this condition are shorter than normal averages.

Endocrine problems

A condition called hypoglycemia, which results in an abnormal decrease in sugar in the blood, usually occurs temporarily during infancy. Sometimes older children with KS can develop hypoglycemia. In very few cases of KS, growth hormone deficiency, hypothyroidism and diabetes can occur.

Genital-urinary problems

Some children with KS develop frequent urinary tract infections, that may be do to structural problems within the urinary tract or the kidneys. Undescended testes and hypospadias can occur in boys. Some girls with KS have premature breast development and onset of puberty.

How is Kabuki syndrome diagnosed?

There is no specific test used to diagnose this condition. Diagnosis is typically made by a geneticist based on a complete medical history, physical examination and presenting signs and symptoms of the condition. Even though children are born with this condition, the features seen with it evolve over time, making a diagnosis in infancy very difficult. Once features of the condition are present, your child may be evaluated by a number of pediatric specialists who treat the different features of the condition mentioned above including but not limited to: a pediatric cardiologist, otolaryngologist, audiologist, orthopedic surgeon, ophthalmologist, neurologist, urologist, immunologist, hematologist, endocrinologist, gastroenterologist and a neurologist.

How is Kabuki syndrome treated?

Treatment for Kabuki syndrome is highly individual, depending on what problems your child is experiencing. Your child's treatment will likely involve a multi-disciplinary team of specialists who treat the individual features that are seen with the condition. In addition to surgeries or medications used to treat these specific problems, children with KS can make significant strides with the combination of:

Early intervention: These services are available for children with developmental delays from birth to school age. Early intervention specialists provide therapy for a wide range of cognitive and physical developmental problems and provide education and support to parents.

Physical and occupational therapy: Most children with KS do have muscle weakness and joint laxity and can benefit from both physical and occupational therapy. Physical therapy is aimed as strengthening muscle tone to lessen the chance of joint dislocations. Occupational therapy is used to help develop coordination and fine-motor skills, such as self-dressing, drawing and writing, etc.

Speech therapy: Delays in speech are commonly seen in children with KS. Problems with the palate, hearing loss, dental problems and hypotonia can all contribute to problems with speech.

Sensory integration therapy: This is used to help children who are experiencing sensory problems such as an aversion to how certain textures feel. Sensory integration therapy works to help improve tolerance to different touch sensations.


					Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School

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