About Lowry-Wood syndrome

What is Lowry-Wood syndrome?

Lowry-Wood syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Lowry-Wood syndrome include intellectual disability, seizures, delayed development, and physical abnormalities such as short stature, low muscle tone, and facial dysmorphism. Treatment is supportive and may include physical, occupational, and speech therapy.

What are the symptoms of Lowry-Wood syndrome?

The symptoms of Lowry-Wood syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney problems
-Gastrointestinal issues
-Skin abnormalities
-Behavioral issues

What are the causes of Lowry-Wood syndrome?

Lowry-Wood syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation affects the development of the brain, heart, and other organs. 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 Lowry-Wood syndrome?

Lowry-Wood syndrome is a rare genetic disorder, so there is no specific treatment for it. However, treatment may be recommended to help manage the symptoms. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Additionally, genetic counseling may be recommended to help families understand the disorder and its implications.

What are the risk factors for Lowry-Wood syndrome?

The exact cause of Lowry-Wood syndrome is unknown, but it is thought to be a genetic disorder. Risk factors for Lowry-Wood syndrome include a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a chromosomal abnormality.

Is there a cure/medications for Lowry-Wood syndrome?

At this time, there is no known cure or specific medications for Lowry-Wood syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, pain, and other symptoms.