Blepharophimosis-intellectual disability syndrome, Verloes type (BPID-V) is a rare genetic disorder characterized by blepharophimosis (a condition in which the eyelids are abnormally small and close together), intellectual disability, and other physical abnormalities. Affected individuals may have a small head, a short neck, and a broad nasal bridge. They may also have a cleft lip and/or palate, and/or other facial abnormalities. Other features may include skeletal abnormalities, hearing loss, and/or vision problems. BPID-V is caused by mutations in the MED12 gene and is inherited in an autosomal dominant manner. Treatment is based on the individual's symptoms and may include physical therapy, speech therapy, and/or surgery.

The symptoms of Blepharophimosis-Intellectual disability syndrome, Verloes type, include:

-Blepharophimosis (narrowing of the eyelids)
-Epicanthal folds (skin folds that cover the inner corner of the eyes)
-Downslanting palpebral fissures (narrowing of the opening between the eyelids)
-Highly arched eyebrows
-Widely spaced eyes
-Short nose with a broad nasal bridge
-Small mouth with downturned corners
-Low-set ears
-Intellectual disability
-Delayed speech and language development
-Delayed motor development
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Heart defects
-Kidney abnormalities
-Cleft palate
-Cleft

Blepharophimosis-intellectual disability syndrome, Verloes type is caused by a mutation in the FREM2 gene. This gene is responsible for the production of a protein called FRAS1, which is involved in the development of the eyelids, face, and brain. Mutations in this gene can lead to a range of physical and intellectual disabilities, including blepharophimosis, intellectual disability, and other developmental delays.

There is no known cure for Blepharophimosis-intellectual disability syndrome, Verloes type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include:

• Eye care: Regular eye exams and corrective lenses may be necessary to manage vision problems.

• Surgery: Surgery may be necessary to correct the facial features associated with the condition.

• Physical therapy: Physical therapy may be recommended to help improve muscle strength and coordination.

• Speech therapy: Speech therapy may be recommended to help improve communication skills.

• Occupational therapy: Occupational therapy may be recommended to help improve daily living skills.

• Behavioral therapy: Behavioral therapy may be recommended to help manage any behavioral issues.

• Medication: Medication may be prescribed to help manage seizures or other medical conditions associated with

1. Genetic mutation: Blepharophimosis-intellectual disability syndrome, Verloes type is caused by a mutation in the FREM2 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Gender: The disorder is more common in males than females.

4. Age: The disorder is usually diagnosed in infancy or early childhood.

Unfortunately, there is no cure for Blepharophimosis-intellectual disability syndrome, Verloes type. However, there are medications that can help manage the symptoms associated with the condition. These medications include anticonvulsants, antipsychotics, and muscle relaxants. Additionally, physical and occupational therapy can help improve motor skills and communication.