About Burn-McKeown syndrome

What is Burn-McKeown syndrome?

Burn-McKeown syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms of the disorder include intellectual disability, delayed motor development, seizures, and facial dysmorphism. Other features may include skeletal abnormalities, hearing loss, and vision problems.

What are the symptoms of Burn-McKeown syndrome?

The symptoms of Burn-McKeown syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Gastrointestinal problems
-Skin abnormalities
-Skeletal abnormalities

What are the causes of Burn-McKeown syndrome?

Burn-McKeown syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation results in a deficiency of the protein, which is responsible for maintaining the structure of cells. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

What are the treatments for Burn-McKeown syndrome?

The treatment for Burn-McKeown syndrome is primarily supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to reduce muscle spasms, improve mobility, and reduce pain. In some cases, surgery may be necessary to correct skeletal deformities.

What are the risk factors for Burn-McKeown syndrome?

The primary risk factor for Burn-McKeown syndrome is having a family history of the disorder. Other risk factors include having a genetic mutation in the GATA2 gene, being of Ashkenazi Jewish descent, and having a history of recurrent infections.

Is there a cure/medications for Burn-McKeown syndrome?

At this time, there is no known cure for Burn-McKeown Syndrome. However, there are medications that can be used to help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and pain. Additionally, physical and occupational therapy can help improve mobility and quality of life.