About Malan overgrowth syndrome

What is Malan overgrowth syndrome?

Malan overgrowth syndrome is a rare genetic disorder characterized by excessive growth of the hands, feet, and face. It is caused by a mutation in the PIK3CA gene, which is responsible for controlling cell growth and division. Symptoms of the disorder include macrocephaly (enlarged head), macroorchidism (enlarged testicles), and macroglossia (enlarged tongue). Other features may include developmental delay, intellectual disability, and seizures. Treatment typically involves growth hormone therapy and surgery to correct any physical deformities.

What are the symptoms of Malan overgrowth syndrome?

The symptoms of Malan overgrowth syndrome vary from person to person, but may include:

-Abnormal growth of the head, face, and hands
-Developmental delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems
-Skeletal abnormalities
-Skin abnormalities
-Behavioral problems

What are the causes of Malan overgrowth syndrome?

Malan overgrowth syndrome is a rare genetic disorder caused by a mutation in the PIK3CA gene. This gene is responsible for producing an enzyme called phosphatidylinositol 3-kinase (PI3K), which is involved in cell growth and development. Mutations in this gene can lead to an overproduction of PI3K, resulting in abnormal growth of cells and tissues.

What are the treatments for Malan overgrowth syndrome?

The treatment for Malan overgrowth syndrome is primarily supportive and symptomatic. This includes physical therapy, occupational therapy, speech therapy, and orthopedic surgery to correct any skeletal deformities. Other treatments may include medications to reduce pain, improve mobility, and reduce inflammation. In some cases, hormone replacement therapy may be recommended.

What are the risk factors for Malan overgrowth syndrome?

1. Genetic predisposition: Malan overgrowth syndrome is caused by a mutation in the PIK3CA gene, which is inherited in an autosomal dominant pattern.

2. Age: Malan overgrowth syndrome is more common in children and adolescents.

3. Gender: Malan overgrowth syndrome is more common in males than females.

4. Ethnicity: Malan overgrowth syndrome is more common in individuals of African descent.

Is there a cure/medications for Malan overgrowth syndrome?

At this time, there is no known cure for Malan overgrowth 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 other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and quality of life.