About Cataract-aberrant oral frenula-growth delay syndrome
What is Cataract-aberrant oral frenula-growth delay syndrome?
Cataract-aberrant oral frenula-growth delay syndrome is a rare genetic disorder characterized by the presence of cataracts, abnormal oral frenula (the thin membrane that connects the inner lip to the gums), and delayed growth. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms of this disorder include vision problems, speech and feeding difficulties, and developmental delays. Treatment typically involves surgery to remove the cataracts and speech therapy to help with communication.
What are the symptoms of Cataract-aberrant oral frenula-growth delay syndrome?
The symptoms of Cataract-aberrant oral frenula-Growth delay syndrome include:
• Cataracts (clouding of the lens of the eye)
• Abnormal oral frenula (the tissue connecting the upper lip to the gums)
• Growth delay (slower than normal growth rate)
• Intellectual disability
• Seizures
• Abnormal facial features
• Abnormalities of the hands and feet
• Abnormalities of the heart and other organs
• Abnormalities of the blood vessels
• Abnormalities of the skin
• Abnormalities of the ears and hearing
What are the causes of Cataract-aberrant oral frenula-growth delay syndrome?
Cataract-aberrant oral frenula-growth delay syndrome is a rare genetic disorder caused by mutations in the CABYR gene. 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 Cataract-aberrant oral frenula-growth delay syndrome?
Unfortunately, there is no known cure for Cataract-aberrant oral frenula-growth delay syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include regular eye exams to monitor the cataracts, speech therapy to help with speech and language development, and physical therapy to help with motor development. Additionally, nutritional counseling may be recommended to ensure the child is getting the proper nutrition to support growth and development.
What are the risk factors for Cataract-aberrant oral frenula-growth delay syndrome?
1. Genetic predisposition: Cataract-aberrant oral frenula-growth delay syndrome is caused by a genetic mutation, so individuals with a family history of the condition are at higher risk.
2. Premature birth: Babies born prematurely are more likely to develop Cataract-aberrant oral frenula-growth delay syndrome.
3. Low birth weight: Babies born with a low birth weight are more likely to develop Cataract-aberrant oral frenula-growth delay syndrome.
4. Exposure to certain medications: Certain medications, such as anticonvulsants, can increase the risk of developing Cataract-aberrant oral frenula-growth delay syndrome.
5. Exposure to certain environmental toxins: Exposure to certain environmental toxins, such as lead, can increase the risk of developing Catar
Is there a cure/medications for Cataract-aberrant oral frenula-growth delay syndrome?
Unfortunately, there is no known cure or medications for Cataract-aberrant oral frenula-growth delay syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, speech therapy, and occupational therapy to help with motor skills and communication. Additionally, nutritional counseling may be recommended to ensure proper nutrition and growth.