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KAT6A Syndrome

What is KAT6A syndrome?

KAT6A syndrome is a neurodevelopmental disorder, meaning that it impairs the growth of the central nervous system and brain. 

What are the symptoms of KAT6A syndrome?

There are many symptoms that have been associated with this syndrome, but researchers are still learning more about this very rare disorder. Effects vary between affected individuals; two people could experience completely different symptoms. They include:

  • Intellectual disability
  • Delays in developmental milestones
  • Speech issues
  • Microcephaly
  • Craniosynostosis
  • Issues swallowing
  • Oromotor dysfunction
  • Gastroesophageal reflux
  • Constipation
  • Twisted or rotated intestines
  • Heart defects
  • Distinct facial features
  • Behavioral issues
  • Problems with sleeping
  • Recurrent infections
  • Seizures

What causes KAT6A syndrome?

A mutated KAT6A gene causes this condition, and it is inherited in an autosomal dominant pattern, although most cases are the result of a sporadic mutation. The mutation results in issues with a protein that is needed throughout the body, classified as a form of histone acetyltransferase. 

How is KAT6A syndrome diagnosed?

Doctors will look for the characteristic symptoms, perform a clinical evaluation, exam patient and family history, and perform various tests. An MRI, echocardiogram, neurological exam, and eye exam may all be helpful, but a diagnosis will be confirmed through genetic testing. 

What are the treatments for KAT6A syndrome?

Treatment for this syndrome is symptomatic and often requires a team of specialists. Affected individuals should be assessed to see if they would benefit from speech, behavioral, physical, and occupational therapy. 

Where can I find out more about KAT6A syndrome?

KAT6A Syndrome Articles