Atypical Norrie disease due to Xp11.3 microdeletion is a rare genetic disorder caused by a deletion of a small piece of genetic material on the X chromosome. It is characterized by severe vision loss, intellectual disability, and hearing loss. It is caused by a mutation in the NDP gene, which is located on the X chromosome. The deletion of the genetic material on the X chromosome results in a lack of the NDP protein, which is essential for normal development of the eyes, ears, and brain.

The symptoms of Atypical Norrie disease due to Xp11.3 microdeletion vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Growth delays
-Abnormalities of the head and face
-Abnormalities of the hands and feet
-Abnormalities of the heart and other organs
-Behavioral problems
-Speech and language delays

Atypical Norrie disease due to Xp11.3 microdeletion is caused by a mutation in the NDP gene, which is located on the X chromosome. This mutation results in a deletion of a small section of the X chromosome, known as a microdeletion. This microdeletion affects the expression of the NDP gene, which is responsible for the development of the eye and the inner ear. As a result, individuals with this condition may experience vision and hearing loss, as well as other developmental delays.

Currently, there is no known cure for Atypical Norrie Disease due to Xp11.3 microdeletion. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and vision therapy. Other treatments may include medications to help control seizures, hearing aids, and assistive devices to help with mobility. Surgery may be recommended to correct any physical deformities or to help improve vision. Genetic counseling may also be recommended for families affected by Atypical Norrie Disease.

1. Family history of Atypical Norrie Disease
2. Maternal age over 35
3. Xp11.3 microdeletion
4. Male gender
5. Low birth weight
6. Premature birth
7. Low Apgar scores
8. Abnormal prenatal ultrasound findings

At this time, there is no cure for Atypical Norrie Disease due to Xp11.3 microdeletion. However, there are medications that can help manage the symptoms of the condition. These include medications to help with vision, hearing, and motor skills, as well as medications to help with seizures, anxiety, and depression. Additionally, physical and occupational therapy can help improve motor skills and daily functioning.