About Kleefstra syndrome

What is Kleefstra syndrome?

Kleefstra syndrome is a rare genetic disorder caused by a mutation in the EHMT1 gene. It is characterized by intellectual disability, delayed development, speech and language impairments, and physical abnormalities. Other symptoms may include seizures, autism, and behavioral problems.

What are the symptoms of Kleefstra syndrome?

The most common symptoms of Kleefstra syndrome include:

-Developmental delay
-Intellectual disability
-Speech and language delay
-Seizures
-Behavioral problems
-Growth delays
-Feeding difficulties
-Hypotonia (low muscle tone)
-Facial dysmorphism (abnormal facial features)
-Hearing loss
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems
-Sleep disturbances
-Skeletal abnormalities
-Skin abnormalities

What are the causes of Kleefstra syndrome?

Kleefstra syndrome is caused by a mutation in the EHMT1 gene. This gene is responsible for producing a protein that helps regulate the activity of other genes. Mutations in this gene can lead to a wide range of physical and intellectual disabilities.

What are the treatments for Kleefstra syndrome?

The treatments for Kleefstra syndrome vary depending on the individual and the severity of the symptoms. Treatment may include physical, occupational, and speech therapy, as well as medications to help manage seizures, anxiety, and other symptoms. Other treatments may include dietary modifications, vitamin and mineral supplements, and genetic counseling.

What are the risk factors for Kleefstra syndrome?

The primary risk factor for Kleefstra syndrome is having a parent who carries a mutation in the EHMT1 gene. Other risk factors include having a family history of the disorder, being of Dutch descent, and having a parent who is a carrier of the EHMT1 gene mutation.

Is there a cure/medications for Kleefstra syndrome?

There is currently no cure for Kleefstra syndrome. However, there are medications and therapies that can help manage the symptoms. These include medications to help with seizures, muscle spasms, and sleep disturbances, as well as physical, occupational, and speech therapies.