Oculodental syndrome, Rutherfurd type is a rare genetic disorder characterized by abnormalities of the eyes, teeth, and facial bones. It is caused by a mutation in the gene encoding the protein filamin B. Symptoms may include small eyes, a wide nasal bridge, a small lower jaw, and malformed or missing teeth. Other features may include hearing loss, intellectual disability, and skeletal abnormalities. Treatment is symptomatic and may include orthodontic care, speech therapy, and hearing aids.

The symptoms of Oculodental Syndrome, Rutherfurd type, include:

-Abnormal facial features, including a broad forehead, wide-set eyes, and a flat midface
-High, arched palate
-Widely spaced teeth
-Cleft lip and/or palate
-Abnormalities of the eyes, including strabismus (crossed eyes), ptosis (drooping eyelids), and/or nystagmus (involuntary eye movements)
-Hearing loss
-Delayed development
-Intellectual disability
-Seizures
-Abnormalities of the hands and feet, including syndactyly (webbed fingers and/or toes) and/or polydactyly (extra fingers and/or toes)

Oculodental syndrome, Rutherfurd type is caused by a mutation in the gene encoding the protein filamin A (FLNA). This gene is responsible for the development of the eyes, teeth, and other facial features. Mutations in this gene can lead to a wide range of symptoms, including ocular abnormalities, dental abnormalities, and facial dysmorphism.

The treatments for Oculodental syndrome, Rutherfurd type, vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and preventing further complications. This may include:

• Regular eye exams to monitor vision and detect any changes
• Regular dental exams to monitor the teeth and gums
• Orthodontic treatment to correct any misalignment of the teeth
• Surgery to correct any facial deformities
• Speech therapy to help with any speech difficulties
• Physical therapy to help with any physical limitations
• Genetic counseling to help understand the condition and its inheritance
• Medications to help manage any associated pain or discomfort
• Dietary changes to help manage any associated digestive issues

1. Autosomal dominant inheritance
2. Mutations in the PAX9 gene
3. Family history of the disorder
4. Exposure to certain environmental factors
5. Low birth weight
6. Premature birth
7. Low socioeconomic status
8. Poor nutrition
9. Exposure to certain medications during pregnancy

There is no known cure for Oculodental Syndrome, Rutherfurd type. However, there are medications that can help manage the symptoms. These include antibiotics, anti-inflammatory medications, and antifungal medications. Additionally, some patients may benefit from physical therapy, occupational therapy, and speech therapy.