Baraitser-Winter cerebrofrontofacial syndrome (BWS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and a variety of other physical and neurological abnormalities. It is caused by a mutation in the PORCN gene, which is responsible for the production of a protein involved in the development of the face, brain, and other organs. Symptoms of BWS can include a wide-set eyes, a broad forehead, a short nose, a wide mouth, and a pointed chin. Other features may include seizures, hearing loss, and vision problems.

The symptoms of Baraitser-Winter cerebrofrontofacial syndrome can vary from person to person, but some of the most common symptoms include:

• Intellectual disability
• Seizures
• Delayed development
• Abnormal facial features, including a broad forehead, deep-set eyes, a short nose, and a wide mouth
• Abnormalities of the hands and feet, including extra fingers and toes
• Abnormalities of the eyes, including strabismus (crossed eyes) and cataracts
• Abnormalities of the ears, including hearing loss
• Abnormalities of the heart, including congenital heart defects
• Abnormalities of the kidneys, including cysts and other structural abnormalities
• Abnormalities of the bones, including Scoliosis (curvature of the spine) and

Baraitser-Winter cerebrofrontofacial syndrome is caused by a mutation in the PORCN gene. This gene is responsible for the production of a protein that is involved in the development of the face, brain, and other organs. Mutations in this gene can lead to the development of Baraitser-Winter cerebrofrontofacial syndrome.

The treatments for Baraitser-Winter cerebrofrontofacial syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and other therapies to help with motor skills, communication, and socialization. Medications may also be prescribed to help with seizures, sleep disturbances, and other medical issues. Surgery may be recommended to correct facial deformities or to improve breathing. Genetic counseling may also be recommended to help families understand the condition and plan for the future.

1. Genetic mutation in the POF1B gene
2. Family history of Baraitser-Winter cerebrofrontofacial syndrome
3. Maternal diabetes
4. Maternal obesity
5. Maternal advanced age
6. Maternal smoking
7. Maternal alcohol consumption
8. Maternal exposure to certain medications or toxins

There is no known cure for Baraitser-Winter cerebrofrontofacial syndrome. However, there are medications that can help manage some of the symptoms associated with the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve motor skills and communication.