Weiss-Kruszka Syndrome

Weiss-Kruszka Syndrome is a rare genetic condition caused by changes (variants) in the KAT6A gene. It is also sometimes called KAT6A Syndrome. This condition affects many parts of the body and development, and it is present from birth. The brain and nervous system are most commonly affected, leading to intellectual disability that can range from mild to severe, as well as delays in reaching developmental milestones like sitting, walking, and talking. Many children with this syndrome have little or no speech, which can be one of the most challenging aspects of the condition for families. Beyond brain development, Weiss-Kruszka Syndrome can also affect the heart, eyes, and facial features. Some children are born with heart defects that may need surgery. Feeding difficulties are very common in infancy, and many babies need special feeding support. Distinctive facial features, such as a small head size, widely spaced eyes, and a small mouth, are often noticed by doctors. There is currently no cure for Weiss-Kruszka Syndrome. Treatment focuses on managing symptoms and supporting development. This includes speech therapy, occupational therapy, physical therapy, and special education programs. Heart defects are treated as needed, sometimes with surgery. With the right support, many individuals with this syndrome can make meaningful developmental progress over time.

Bring these to your next appointment

• Q1.What specific change was found in my child's KAT6A gene, and what does that mean for their prognosis?,Should other family members be tested for this gene change?,What therapies should we start right away, and how often should they happen?,Does my child need a heart evaluation, and how often should it be repeated?,What communication tools or AAC devices would you recommend for my child?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt me to seek emergency care?

Common questions about Weiss-Kruszka Syndrome