About Blepharophimosis-ptosis-epicanthus inversus syndrome plus
What is Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
Blepharophimosis-ptosis-epicanthus inversus syndrome plus (BPES+) is a rare genetic disorder characterized by blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), epicanthus inversus (inward folding of the inner corner of the eyelids), and additional features such as cleft lip/palate, hearing loss, and/or developmental delay. It is caused by a mutation in the FOXL2 gene.
What are the symptoms of Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
The symptoms of Blepharophimosis-ptosis-epicanthus inversus syndrome plus (BPES+) include:
-Blepharophimosis (narrowing of the eyelids)
-Ptosis (drooping of the upper eyelids)
-Epicanthus inversus (inward turning of the inner corner of the eye)
-Strabismus (crossed eyes)
-Upper eyelid coloboma (notch in the upper eyelid)
-Downslanting palpebral fissures (downward slanting of the eyelids)
-Hypertelorism (widely spaced eyes)
-Upper eyelid eversion (outward turning of the upper eyelid)
-Lower eyelid eversion (outward turning of the lower
What are the causes of Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
1. Genetic mutations: Blepharophimosis-ptosis-epicanthus inversus syndrome plus is caused by mutations in the FOXL2 gene.
2. Chromosomal abnormalities: Chromosomal abnormalities such as deletions or duplications of genetic material can also cause this condition.
3. Environmental factors: Exposure to certain environmental factors such as radiation or certain medications may also be a cause of this condition.
What are the treatments for Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
1. Eyelid Surgery: This is the most common treatment for Blepharophimosis-ptosis-epicanthus inversus syndrome plus. Surgery can help to correct the drooping eyelids and the epicanthus inversus.
2. Botox Injections: Botox injections can be used to help relax the muscles around the eyes, which can help to improve the appearance of the eyes.
3. Eyeglasses: Eyeglasses can be used to help correct any vision problems that may be associated with the condition.
4. Eye Drops: Eye drops can be used to help reduce any inflammation or irritation that may be present in the eyes.
5. Surgery to Correct Vision Problems: Surgery may be necessary to correct any vision problems that may be associated with the condition.
What are the risk factors for Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
The risk factors for Blepharophimosis-ptosis-epicanthus inversus syndrome plus (BPES+) include:
1. Family history of BPES+
2. Maternal exposure to certain medications during pregnancy
3. Maternal diabetes
4. Maternal smoking
5. Maternal alcohol consumption
6. Maternal obesity
7. Advanced maternal age
8. Low birth weight
9. Premature birth
Is there a cure/medications for Blepharophimosis-ptosis-epicanthus inversus syndrome plus?
There is no cure for Blepharophimosis-ptosis-epicanthus inversus syndrome plus. Treatment is aimed at improving the appearance of the eyes and eyelids. This may include surgery to correct the eyelid position, eyelid tightening, and/or eyelid reconstruction. Medications may also be prescribed to help reduce inflammation and improve vision.