What is Kabuki syndrome?
Kabuki syndrome is a rare genetic condition that affects development and can cause distinctive facial features, learning difficulties, and medical issues.
What causes Kabuki syndrome?
Kabuki syndrome is usually caused by a mutation in the KMT2D gene, and in some cases, the KDM6A gene. These genes play a role in development and growth. The condition typically does not run in families, though in rare cases, it can be inherited.
What are the symptoms of Kabuki syndrome?
The symptoms of Kabuki syndrome vary from person to person, but common features include:
Facial characteristics:
- Long, arched eyebrows
- Large, wide-set eyes
- A broad nose and depressed nasal tip
- Prominent, cupped ears
Developmental and medical challenges:
- Delayed speech and motor skills
- Mild to moderate learning disabilities
- Low muscle tone (hypotonia)
- Feeding difficulties in infancy
- Joint flexibility issue
- Heart, kidney, or immune system problems
If you are concerned that your child may have Kabuki syndrome, it is important to speak to a doctor for a diagnosis.
