The Kabuki syndrome is a rare genetic disorder that affects the face, the skeleton, and the brain. It can be present from birth, though the symptoms may vary greatly from person to person. Symptoms include:
Distinctive facial appearance, such as long eyelid openings, arched eyebrows, flat nose, large ears, and small jaw
Skeletal abnormalities, such as short stature, scoliosis, joint laxity, and finger or toe deformities
Growth delays, such as low birth weight, slow growth, and delayed puberty
Intellectual disability, ranging from mild to severe, and learning difficulties
Other problems, such as heart defects, kidney anomalies, hearing loss, vision problems, immune deficiency, and hormonal imbalance
A mutation in one of two genes causes Kabuki syndrome: KMT2D or KDM6A. These genes are involved in regulating the activity of other genes during development. Mutations in these genes can occur either randomly in egg or sperm cells, or they can be passed down from one parent to the next generation. Kabuki syndrome is usually not inherited, but there may be more than one affected member in a family.
Even within the same family, symptoms of kabuki syndrome can vary greatly. Some symptoms may be present at birth, while others may develop later in life.
People with kabuki syndrome have a distinctive facial appearance that resembles the makeup of kabuki, a traditional Japanese theater form. Among the facial features are long eyelids with an upward slant, thick eyebrows with sparse hairs, a flat nose, large and protruding ears, a receding jaw, and a high-arched palate or cleft. There may also be a blueish tint to the whites of the eyes, droopy eyelids, crossed eyes, small teeth, or dimples on the lower lip for some people.
It affects the height and posture of people with kabuki syndrome due to various skeletal abnormalities. There are several skeletal features associated with this condition, including short stature, a curvy spine, loose and flexible joints, abnormal fingers or toes, and hip dislocation, clubfoot, or flat feet.
The growth features of kabuki syndrome include low birth weight, slow growth rate, and delayed puberty. People with kabuki syndrome have a slow growth rate. Growth hormone deficiency can also be treated with hormone injections.
A person with kabuki syndrome has an intellectual disability that affects their ability to learn and develop. In addition to mild to severe cognitive impairment, speech delay, and behavioral difficulties, some people may also suffer from autism spectrum disorders, attention deficit hyperactivity disorder, and anxiety disorders.
Other features: People with kabuki syndrome may have other health-related problems. Other characteristics include heart defects, such as holes in the heart or abnormal valves, kidney anomalies, such as cysts or reflux, hearing loss, vision problems, such as nearsightedness or astigmatism, immune deficiency, such as frequent infections and allergies, and hormonal imbalance, such as hypothyroidism or diabetes.
An individual's clinical features and genetic testing are used to diagnose kabuki syndrome. In genetic testing, the person's DNA is examined for mutations in the KMT2D or KDM6A genes in order to confirm the diagnosis, identify the cause, and assist with genetic counseling. Clinical features are the physical signs and symptoms the person has.
Kabuki syndrome cannot be cured, but there are treatments that can help manage symptoms and improve quality of life. Treatments vary depending on the needs and problems of each individual. Some treatments include:
Medication can help treat some medical conditions, such as infections, allergies, seizures, or diabetes, as well as behavioral problems, such as anxiety, hyperactivity, or aggression.
Besides correcting physical problems such as heart defects, cleft palates, and hip dislocations, surgery can also address cosmetic problems such as ear or nose reshaping, or jaw advancement.
As well as helping with developmental and learning difficulties, therapy can also help with emotional and psychological problems, such as self-esteem, stress management, and coping skills.
In addition to helping with academic and vocational problems, education can also help with life skills problems, such as daily living, communication, and independence.
The provision of support can be helpful in dealing with personal and family problems, such as providing information, guidance, and counseling. Support can also be helpful in dealing with social and community problems, such as providing peer interaction, recreation, or advocacy.
Due to the genetic nature of kabuki syndrome, there is no way to prevent it. However, there are some ways to reduce complications and improve the outcome.
It is possible to detect some of these problems early through prenatal care and provide appropriate interventions, such as fetal surgery, medication, or delivery planning. In addition to screening, vaccination, or treatment, prenatal care can help prevent some of these problems, such as infections.
As well as providing information and advice about the cause, inheritance, and recurrence of Kabuki syndrome, genetic counseling can also help with decisions and planning for the future, such as family planning, pregnancy, or adoption.
Regular check-ups: Regular check-ups can help monitor and manage some of the problems that may arise or worsen over time, such as growth, development, or health. By providing guidance, education, or interventions, regular check-ups can also prevent many of these problems, such as obesity.
Some of the problems that may affect well-being, such as nutrition, exercise, or sleep, can be improved by maintaining a healthy lifestyle. By boosting the immune system and reducing germ exposure, a healthy lifestyle can also help prevent some of these problems, including infections.
