Blepharophimosis-intellectual disability syndrome, Ohdo type is a rare genetic disorder characterized by a distinctive facial appearance, intellectual disability, and other physical abnormalities. People with this condition have a small head size (microcephaly), a short, upturned nose, and small, widely spaced eyes (blepharophimosis). They may also have a small jaw (micrognathia), a high-arched palate, and/or hearing loss. Other features may include skeletal abnormalities, heart defects, and/or kidney problems. This condition is caused by mutations in the MED12 gene and is inherited in an autosomal dominant pattern.

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

-Blepharophimosis (narrowing of the eyelids)
-Epicanthal folds (skin folds that cover the inner corner of the eyes)
-Low-set ears
-Short nose with a broad nasal bridge
-Highly arched palate
-Small chin
-Intellectual disability
-Delayed development
-Speech delay
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Abnormalities of the hands and feet
-Abnormalities of the heart and other organs

Blepharophimosis-intellectual disability syndrome, Ohdo type is caused by a mutation in the FREM2 gene. This gene is responsible for the production of a protein that is important for the development of the eyes, brain, and other organs. Mutations in this gene can lead to a range of physical and intellectual disabilities, including blepharophimosis, intellectual disability, and other developmental delays.

The treatments for Blepharophimosis-intellectual disability syndrome, Ohdo type, are largely supportive and symptomatic. Treatment may include physical therapy to help improve motor skills, speech therapy to help improve communication, occupational therapy to help with daily activities, and special education services to help with learning. In some cases, surgery may be recommended to correct the facial features associated with the condition. Additionally, medications may be prescribed to help manage any associated seizures or other medical conditions.

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

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

3. Gender: Blepharophimosis-intellectual disability syndrome, Ohdo type 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, Ohdo type. However, there are medications that can help manage the symptoms. These include anticonvulsants, antipsychotics, and stimulants. Additionally, physical and occupational therapy can help improve motor skills, and speech therapy can help improve communication.