Below is a summary for the SETD5 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 SETD5-related syndrome?
SETD5-related syndrome happens when there are changes to the SETD5 gene. These changes can keep the gene from working as it should.
The SETD5 gene plays a key role in controlling other genes.
Many people who have SETD5-related syndrome have:
- Intellectual disability
- Language delay
- Differences in facial features
Do people who have SETD5-related syndrome look different?
People who have SETD5-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Short head, also called brachycephaly
- Large, high forehead
- Eyebrows that meet in the middle of the forehead or are full and broad
- Long, thin, tube-shaped nose
- Long, narrow, up-slanting openings of the eyelids, also called palpebral fissures
- Large, fleshy, low-set ears
Research Article Summaries