What causes Kabuki syndrome?
Kabuki syndrome is believed to be an inherited disorder but doctors have not yet identified a specific chromosomal abnormality that is responsible for causing the condition.
What are the symptoms and physical traits associated with Kabuki syndrome?
Features generally include some of the following physical features, although no child will have them all:
- Arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip and large ears
- Bone abnormalities: short fingers (especially the fifth finger), mild webbing between the fingers, irregularly shaped vertebrae, mild spina bifida and/or scoliosis
- Poor muscle tone (hypotonia)
- Very flexible joints
- Problems feeding
- Frequent infections, including urinary tract infections and respiratory and/or ear infections during infancy and early childhood
- Hearing problems/ hearing loss
- Congenital heart defects
- Endocrine problems, such as hypoglycemia (low blood sugar), growth hormone deficiency, hypothyroidism (overactive thyroid) or diabetes
- Kidney and urinary tract problems
- Small mouth or jaw, or cleft or high arched palate
- Missing teeth, unusually shaped teeth or misaligned teeth
- Early breast development and/or early puberty (girls)
- Diarrhea and/or constipation
What is the prognosis of a child with Kabuki syndrome?
People with Kabuki syndrome do not have a shortened lifespan. Medication and medical care can help children with heart, kidney and intestinal abnormalities to resolve these issues over time.