2p13.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.

The symptoms of 2p13.2 microdeletion syndrome vary from person to person, but may include: developmental delay, intellectual disability, speech and language delays, Hypotonia (low muscle tone), seizures, autism spectrum disorder, behavioral problems, and Physical abnormalities such as a Small head size, low-set ears, and a wide-spaced, upturned nose.

2p13.2 microdeletion syndrome is caused by a deletion of genetic material on the short arm of chromosome 2. This deletion is usually inherited from a parent, but can also occur spontaneously.

Treatment for 2p13.2 microdeletion syndrome is largely supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and special education services. Other treatments may include medications to help with seizures, behavioral issues, and sleep disturbances. In some cases, surgery may be recommended to correct physical abnormalities. Genetic counseling is also recommended for individuals with 2p13.2 microdeletion syndrome and their families.

1. Advanced maternal age
2. Family history of chromosomal abnormalities
3. Abnormal prenatal ultrasound
4. Abnormal maternal serum screening
5. Abnormal amniocentesis results
6. Abnormal karyotype results

At this time, there is no known cure or specific medications for 2p13.2 microdeletion syndrome. Treatment is focused on managing the individual symptoms and complications associated with the condition. This may include physical, occupational, and speech therapy, as well as medications to manage seizures, anxiety, and other medical issues.