Kabuki syndrome

Symptoms

Are 22q11.2 deletion syndrome and kabuki syndrome related?

Kabuki syndrome is a genetic condition that involves delayed growth and development, intellectual disabilities, and a distinctive facial appearance. Heart problems present from birth, and an opening in the roof of the mouth (cleft palate) can also occur in about 50% of patients with Kabuki syndrome.

22q11.2 deletion syndrome is a genetic condition that is caused by a deletion of a specific area on chromosome 22. This condition can include heart problems that are often present from birth, a cleft palate, and distinctive facial features. Many children with 22q11.2 deletion syndrome also have developmental delays, including delayed growth and speech development, and learning disabilities.

Just from the description of these two conditions, you can probably see the similarities between them. In particular, people with Kabuki syndrome sometimes have similar heart problems as people with 22q11.2 deletion syndrome. Because of this overlap, before they found the genes that when changed caused Kabuki syndrome, it was thought for while that the two conditions might be related or even be caused by the same mechanism.

There was a study in 1996 that looked for a deletion in that particular area on chromosome 22 that causes 22q11.2 deletion syndrome in people diagnosed with Kabuki syndrome. Theoretically, if they found the same deletion in the two groups, then Kabuki syndrome and 22q11.2 deletion syndrome could have the same genetic cause. The study did NOT find a deletion in that region in the people with Kabuki syndrome, which suggested the two genetic conditions were not caused by the same mechanism.

Since then, research has shown that changes in two different genes, neither of which are on chromosome 22, can cause Kabuki syndrome. A gene named KMT2D is responsible for a majority of cases (between 55-80%) of Kabuki syndrome. The second gene, named KDM6A, is responsible for a smaller number of cases (about 6%). Some people with Kabuki syndrome do not have changes in either of these genes. The cause of the disorder in these patients is unknown, but doesn't seem to be related to 22q11.2.

You can find additional information about Kabuki syndrome and 22q11.2 deletion syndrome on ThinkGenetic.com. A second website that has really good information is Genetics Home Reference.

References
  • Ask a ThinkGenetic Counselor, October 25, 2016
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More Symptoms Content

What are the main symptoms of Kabuki syndrome?

Is there earlier onset, later onset, or variant forms of Kabuki syndrome?

What health problems should I look for with Kabuki syndrome?

Any other diseases that look a lot like Kabuki syndrome?

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Kabuki syndrome?

Are there examples of partial penetrance in Kabuki syndrome?

What are the main symptoms of Kabuki syndrome?

Symptoms of KS include:

  • Unique facial features
  • Developmental delay and intellectual disability
  • Seizures
  • Small head size
  • Weak muscles
  • Eye problems
  • Short height
  • Bone problems.

Facial features include arched eyebrows, long eyelashes, wide eyes, lower eyelids turned out at the outside edges, a broad and flat nose tip, and large ears. Eye problems include fast eye movements and eyes that do not look in the same direction. Bone problems include curving of the spine, abnormal fingers (typically short fifth fingers) and abnormal hip and knee joints. People with KS may also have unusual fingerprints with fleshy pads at the fingertips. These are called fetal finger pads. Other problems include the heart problems, hearing issues, and early puberty. Kabuki syndrome is usually diagnosed by a type of doctor called a medical geneticist. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Is there earlier onset, later onset, or variant forms of Kabuki syndrome?

Kabuki syndrome is always present at birth. However, some individuals with Kabuki syndrome are more severely affected than others. Symptoms can vary between different people. However, the disorder has not been divided into early onset, late onset, or variant forms. Talk to a medical geneticist to learn more about Kabuki syndrome. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

What health problems should I look for with Kabuki syndrome?

Individuals with Kabuki syndrome can have many health problems. These include:

  • Bone problems such as a curved spine, which can cause pain
  • Heart defects
  • Widely spaced teeth
  • Digestion problems
  • Difficulty going to the bathroom
  • Vision problems including droopy eyes and being unable to focus on an object
  • Seizures
  • Difficulty feeding and therefore trouble gaining weight
  • Hearing loss
  • Increased risk for infections
  • Intellectual disability

Talk to a medical geneticist to learn more about the symptoms of Kabuki syndrome. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Any other diseases that look a lot like Kabuki syndrome?

Some disorders have symptoms that overlap with those of Kabuki syndrome (KS).

CHARGE syndrome has symptoms such as: heart defects, eye defects, and slow growth. It is caused by mutations in the CHD7 gene. The facial features and the abnormal fingerprints in KS can help to tell the difference between them.

22q11.2 deletion syndrome has symptoms such as: heart defects, a hole in the roof of the mouth, and learning disabilities. It is caused by a missing piece of genetic material. It can usually be recognized as different from KS by the specific facial features of each disorder.

A medical geneticist can differentiate between genetic disorders. A genetic test may be needed. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Kabuki syndrome?

There is no one symptom that can be used to diagnose Kabuki syndrome (KS). However, people with KS are more likely to have unusual fingertips. Their fingertips are fleshy and the fingerprints are unusual. The combination of certain findings makes it much more likely that a person is affected. These findings are:

  • Typical facial features: arched eyebrows, long eyelashes, long/wide eyes, broad nose and large ears
  • Bone problems: curved spine, abnormal fingers
  • Abnormal fingerprints
  • Intellectual disability
  • Small height

Talk to a medical geneticist to learn more about the symptoms of Kabuki syndrome. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Are there examples of partial penetrance in Kabuki syndrome?

To date, everyone with a change in KMT2D has been found to be affected. It is a fully penetrant genetic disorder. However, individuals with Kabuki syndrome may have different symptoms. Some people may have less severe symptoms than others. Some people may have more severe symptoms. This is called variable expressivity. Talk to a medical geneticist to learn more about the symptoms of Kabuki syndrome. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

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