Kabuki Syndrome

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Description

Kabuki syndrome is a rare genetic disorder that affects various aspects of development, including physical features, intellectual abilities, and overall health. Characterized by distinctive facial features, individuals with Kabuki syndrome often experience developmental delays, intellectual disabilities, and various medical complications. This blog post provides a comprehensive overview of Kabuki syndrome, covering its causes, diagnosis, management, and strategies for thriving.

Genes Involved

Genes Involved:

Kabuki syndrome is primarily caused by mutations in two genes:

• KMT2D: This gene provides instructions for making a protein involved in regulating the activity of other genes. Mutations in KMT2D are responsible for about 80-90% of Kabuki syndrome cases.
• KDM6A: This gene also plays a role in regulating gene activity. Mutations in KDM6A are rarer, accounting for around 5-10% of cases.

In some cases, Kabuki syndrome may be caused by mutations in other genes, but these are less common.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Distinctive Facial Features:
  • Broad forehead
  • Arched eyebrows (often with a ‘mitten‘ shape)
  • Long palpebral fissures (eyes appear wide-set)
  • Everted lower eyelids (eyelids turned outwards)
  • Low-set ears
  • Prominent nose with a bulbous tip
  • Thin upper lip with a cupid‘s bow shape
  • Small chin
• Developmental Delays:
  • Speech and language delays
  • Cognitive impairments (ranging from mild to severe)
  • Motor delays (walking, crawling, etc.)
• Other Health Concerns:
  • Heart defects
  • Skeletal abnormalities
  • Hearing loss
  • Vision problems
  • Feeding difficulties
  • Kidney problems
  • Gastrointestinal issues
  • Immune deficiencies
  • Increased risk of infections
  • Sleep apnea
  • Behavioral and social challenges

Causes

Causes:

Kabuki syndrome is a genetic disorder, meaning it is caused by changes in genes. Most cases are caused by new mutations, meaning the mutation occurs spontaneously in the affected individual and is not inherited from their parents. However, in a small percentage of cases, the mutation may be inherited from a parent who carries the mutated gene.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

• Inheritance: If one parent has a mutation in either KMT2D or KDM6A, there is a 50% chance of passing on the mutation to each child.
• Recurrence Risk: The risk of having another child with Kabuki syndrome is significantly increased if one child already has the condition. The exact risk depends on the specific gene involved and whether the mutation was inherited or occurred spontaneously.

Genetic counseling is highly recommended for families affected by Kabuki syndrome to assess the risk of recurrence and discuss potential options.