Below is a summary for the ADNP 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 ADNP-related syndrome or Helsmoortel-Van der Aa Syndrome?
ADNP-related syndrome happens when there are changes to the ADNP gene. These changes can keep the gene from working as it should. The syndrome is also known as Helsmoortel-Van der Aa syndrome.
The ADNP gene plays a key role in the brain and body, including the heart and intestines.
Because the ADNP gene is important in the development and function of brain cells, many people who have ADNP-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Speech and language delay
- Autism or symptoms of autism
- Other behavior issues
- Distinctive facial features
- Intestinal problems or difficulty eating
- Heart problems
- Vision problems
- Sleep difficulties
Do people who have ADNP-related syndrome look different?
People who have ADNP-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Enlarged forehead and high hairline
- Wide bridge of nose
- Cup-shaped ears that stick out
- Differences in the appearance of hands, including extra fingers, also called polydactyly
Almost everyone who has the syndrome has a speech delay. Children are often late to start talking and may have a limited vocabulary.
FEEDING and DIGESTION ISSUES
8 out of 12 people have difficulty eating. Eating difficulties are common. People may also have vomiting, constipation, and heartburn or reflux.
7 out of 11 people have repeated infections. Almost two-thirds have repeated infections, including colds and urinary tract infections.
Research Article Summaries