Kabuki Syndrome – Rare Disease

Kabuki syndrome or “kabuki makeup” as it has been called by some specialists, is a multiple congenital anomaly characterized by typical facial signs. The name makeup came into being due to the appearance of the makeup used in the actors of the Kabuki theater, which is a traditional art in Japan. The name makeup was removed because it was considered an embarrassing way of citing the disease.

As it is a rare disease, little is heard, but the cases are increasing every day. In addition to facial features , skeletal anomalies, growth retardation and intellectual deficit are presented .

Kabuki syndrome was initially diagnosed in Japan, but it has been present in all ethnicities around the world. Little is known about the syndrome, but they believe that it occurs by mutating two genes involved in the regulation of chromatin. Chromatin is responsible for maintaining DNA and activating genes through epigenetic changes.

Main Signs of Kabuki Syndrome

The syndrome has the main signs:

  • Cleft palate and cleft lip
  • Arched eyebrows
  • Elongated lashes
  • Elongated eyelids
  • Low nose tip
  • Hearing Loss
  • Brachydactyly (fifth shortest finger)

Other symptoms such as prominent ears, dislocations in the hips and patella, scoliosis, mental retardation and widely spaced and totally irregular dentition are also strengths. The problem with teething along with the cleft palate and cleft lip almost always offers great difficulty in feeding and speaking that more special care is needed.

They also present muscle contractions that inevitably affect the child’s motor coordination and balance. In 30% of children born with kabuki syndrome, they have heart problems, which is why they need cardiac evaluation essentially in the first year of life.

 Specific Symptoms

In some more isolated cases, children may have seizures and some eating problems. The strabismus and nystagmus can also be observed, but is corrected by early surgical interventions. The most alarming symptom is the issue of growth retardation, many babies and children gain weight slowly and are always below the age-appropriate percentile.

Some cases can be treated with the help of growth hormones to accelerate their development. But in this case, there is a great risk of suffering from obesity in adolescence , without any endocrinological alterations that can be seen through the exams being noticed and proven.

Due to the mental retardation that can present from mild to moderate degree it is very difficult for a child to be able to keep up with regular schools. They need specialized monitoring and assistance in the development of speech and motor skills. In many cases when they reach adolescence, due to the training they receive from childhood, they learn to read and write.

The Hearing

As for hearing loss , on average 50% of children have this deficiency caused by malformation of the middle ear and recurrent infections. Another 25% have sensorineural deficiency, which due to a failure in nerve conduction can be corrected through the use of hearing aids.

In 20% of the children, malformations were noticed in the small bones of the middle ear that are responsible for conducting the sounds, but they can be corrected through surgery or hearing aids as well.

How to Diagnose Kabuki Syndrome?

There is still great difficulty in diagnosing the disease, since there is no exact test that indicates the syndrome. Therefore, the diagnosis is usually made by joining 5 or more determinant and fundamental symptoms such as:

  • Craniofacial malformation
  • Stunted growth and development
  • Skeletal anomalies
  • Intellectual deficit

and through the molecular analysis performed in the requested exams, which gives confirmation. It is also possible to carry out the diagnosis in the prenatal period , when you already have another child with kabuki syndrome or close family member and the mutation is already known.

Treatment of Kabuki syndrome

The treatment occurs under each symptom and its consequences, for example, in the case of babies suffering from feeding difficulties, the insertion of a gastronomy tube can be performed , facilitating their feeding .

In the case of children with hearing loss, an annual assessment, including eye exams, is required. Dental consultations are also essential to monitor the dental condition and its evolution.

IMPORTANT: The kabuki syndrome received its name due to the characteristic features of the disease being similar to the makeup used in the kabuki theater in Japan. Well-marked features with arched eyes and a slightly flattened nose.

As children with kabuki syndrome usually present with recurrent infections, a follow-up with an immunologist may also be requested , in addition to the cardiologist who accompanied the cardiac complications, if any.

For speech problems, the help of a speech therapist is essential to observe the expected development. The physiotherapist performs the job of improving locomotion and muscle development.

See also: What is Edwards Syndrome?

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My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.

Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

Dr. Alexis Hart

My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother. Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

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