DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome is a rare genetic disorder caused by mutations in the DIAPH1 gene. It is characterized by hearing loss, thrombocytopenia (low platelet count), and other symptoms such as facial dysmorphism, developmental delay, and intellectual disability.

The symptoms of DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome include:

- Sensorineural hearing loss
- Thrombocytopenia (low platelet count)
- Abnormal facial features
- Intellectual disability
- Delayed development
- Seizures
- Abnormal eye movements
- Abnormalities of the heart, kidneys, and other organs
- Abnormalities of the blood vessels
- Abnormalities of the immune system
- Abnormalities of the skin

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome is caused by mutations in the DIAPH1 gene. This gene is responsible for the production of a protein that is essential for the development and maintenance of the inner ear. Mutations in this gene can lead to hearing loss, as well as thrombocytopenia, which is a decrease in the number of platelets in the blood.

The primary treatment for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome is gene therapy. This involves introducing a healthy copy of the DIAPH1 gene into the patient's cells, which can help restore normal hearing and platelet levels. Other treatments may include hearing aids, cochlear implants, and medications to help manage symptoms. Additionally, physical and occupational therapy may be recommended to help with any associated developmental delays.

1. Inherited genetic mutation in the DIAPH1 gene
2. Family history of DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
3. Exposure to certain medications or toxins
4. Exposure to certain infections
5. Premature birth
6. Low birth weight
7. Maternal diabetes
8. Maternal smoking during pregnancy

Unfortunately, there is no known cure or medications for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome. Treatment is focused on managing the symptoms and complications of the condition. This may include hearing aids, speech therapy, physical therapy, and medications to manage pain and other symptoms.