Below is a summary for the FOXP1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is FOXP1-Related Syndrome?
FOXP1-related syndrome happens when there are changes to the FOXP1 gene. These changes can keep the gene from working as it should.
The FOXP1 gene is important in the development of the brain and body. It plays a key role in areas of the brain that control language.
The FOXP1 gene can also affect the development of other body parts, including the heart, ears, eyes, and genitals. FOXP1-related syndrome can have mild to moderate effects on the development of communication and social and learning skills. It can affect how a person acts or interacts with others.
Because the FOXP1 gene is important in the development and function of brain cells, many people who have FOXP1-related syndrome have:
- Delayed development and/or intellectual disability.
- Speech and language delay.
- Autism spectrum disorder or features of autism.
- Other behavioral issues.
Do people who have FOXP1-related syndrome look different?
In general, people who have FOXP1-related syndrome generally do not look very different from others. How people look varies among those who have FOXP1-related syndrome. It can include some but not all of these features:
- Face – large forehead, down-slanting eyes, and a short nose with a broad tip.
- Hands and feet – curved fingers, or curved toes, or both with stiff joints that may be tight.
8 out of 11 people in
one study had autism or autistic features.
MRI images for 11 of the 23 people showed structural brain differences including certain brain areas that were small in size. 4 of 16 people in one study had seizures.
8 out of 12 people in one study had low muscle tone.
13 out of 25 people in one study had differences in the structure of the heart, also called a congenital heart defect.
In one study, more than half or 15 out of 27 males who have FOXP1-related syndrome had undescended testes.
Research Article Summaries