About Fraser Syndrome

What is Fraser Syndrome?

Fraser Syndrome is a rare genetic disorder characterized by a variety of physical abnormalities, including webbed fingers and toes, malformed ears, and cryptophthalmos (underdeveloped eyelids). Other features may include cleft lip and palate, kidney and genital abnormalities, and mental retardation.

What are the symptoms of Fraser Syndrome?

The most common symptoms of Fraser Syndrome include:

-Cryptophthalmos (absence of eyelids)
-Cleft lip and/or palate
-Abnormalities of the ears, nose, and/or throat
-Abnormalities of the hands and feet
-Genital abnormalities
-Kidney and urinary tract abnormalities
-Intellectual disability
-Short stature
-Hearing loss
-Heart defects
-Gastrointestinal problems
-Skin abnormalities
-Cleft palate
-Cleft lip
-Cleft uvula
-Cleft tongue
-Cleft chin
-Cleft palate with cleft lip
-Cleft palate with cleft uvula
-Cleft palate with cleft tongue
-Cleft palate with cleft chin
-Cleft palate with cleft lip and

What are the causes of Fraser Syndrome?

Fraser Syndrome is a rare genetic disorder caused by a mutation in the FRAS1 gene. It is an autosomal recessive disorder, meaning that both parents must carry the mutated gene in order for a child to be born with the condition. The exact cause of the mutation is unknown, but it is believed to be due to a spontaneous mutation in the FRAS1 gene.

What are the treatments for Fraser Syndrome?

The treatments for Fraser Syndrome vary depending on the severity of the condition and the individual's symptoms. Treatment may include surgery to correct physical abnormalities, hormone replacement therapy, physical therapy, speech therapy, and occupational therapy. In some cases, genetic counseling may be recommended. In addition, supportive care and lifestyle modifications may be recommended to help manage the symptoms of Fraser Syndrome.

What are the risk factors for Fraser Syndrome?

The primary risk factor for Fraser Syndrome is having a family history of the disorder. Other risk factors include having a parent with a balanced chromosomal rearrangement, having a parent with a translocation involving chromosome 4, and having a parent with a deletion involving chromosome 4.

Is there a cure/medications for Fraser Syndrome?

At this time, there is no cure for Fraser Syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. Treatment may include surgery to correct physical abnormalities, medications to manage seizures, and physical and occupational therapy to help with motor skills.