DEAF1-Related Syndrome
DEAF1-related syndrome is also called Vulto-van Silfhout-de Vries syndrome. For this webpage, we will be using the name DEAF1-related syndrome to encompass the wide range of variants observed in the people identified.
What is DEAF1-related syndrome?
DEAF1-related syndrome happens when there are changes in the DEAF1 gene. These changes can keep the gene from working as it should.
In people who have DEAF1-related syndrome, the DEAF1 gene change usually happens in a specific part of the gene called the “SAND” domain. This part of the gene plays a key role in the ability of DEAF1 to control other genes.
Key Role
The DEAF1 gene controls other genes that play a key role in early brain development.
Symptoms
Because the DEAF1 gene is important for brain activity, many people who have DEAF1-related syndrome have:
- Developmental delay
- Intellectual disability
- Speech impairment
- Autism
- Walking challenges
- Sleeping difficulties
- Seizures
- Constipation
What causes DEAF1-related syndrome?
DEAF1-related syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the DEAF1 gene: one copy from their mother’s egg, and one copy from their father’s sperm. In most cases, parents pass on exact copies of the gene to their child. But the process of creating the egg or sperm is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both.
Sometimes a spontaneous variant happens in the sperm, egg or after fertilization. When a brand new genetic variant happens in the genetic code is called a ‘de novo’ genetic variant. The child is usually the first in the family to have the genetic variant.
De novo variants can take place in any gene. We all have some de novo variants, most of which don’t affect our health. But because DEAF1 plays a key role in development, de novo variants in this gene can have a meaningful effect.
Research shows that DEAF1-related syndrome is often the result of a de novo variant in DEAF1. Many parents who have had their genes tested do not have the DEAF1 genetic variant found in their child who has the syndrome. In some cases, DEAF1-related syndrome happens because the genetic variant was passed down from a parent.
Autosomal dominant conditions
DEAF1-related syndrome is an autosomal dominant genetic condition. This means that when a person has the one damaging variant in DEAF1 they will likely have symptoms of DEAF1-related syndrome. For someone with an autosomal dominant genetic syndrome, every time they have a child there is a 50 percent chance they pass on the same genetic variant and a 50 percent chance they do not pass on the same genetic variant.
Autosomal Dominant Genetic Syndrome
Why does my child have a change in the DEAF1 gene?
No parent causes their child’s DEAF1-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
What are the chances that other family members of future children will have DEAF1-related syndrome?
Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.
The risk of having another child who has DEAF1-related syndrome depends on the genes of both biological parents.
- If neither biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant.
- If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent.
For a symptom-free brother or sister of someone who has DEAF1-related syndrome, the sibling’s risk of having a child who has DEAF1-related syndrome depends on the sibling’s genes and their parents’ genes.
- If neither parent has the same genetic variant causing DEAF1-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit DEAF1-related syndrome.
How many people have DEAF1-related syndrome?
As of 2025, over 36 people with DEAF1-related syndrome have been described in medical research.
Do people who have de novo changes in the DEAF1 look different?
People who have DEAF1-related syndrome do not look very different.
How is DEAF1-related syndrome treated?
Scientists and doctors have only just begun to study DEAF1-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:
- Physical exams and brain studies
- Genetics consults
- Development and behavior studies
- Other issues, as needed
A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:
- Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
- Guide individualized education plans (IEPs).
Specialists advise that therapies for DEAF1-related syndrome should begin as early as possible, ideally before a child begins school.
If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: epilepsy.com/…t-is-epilepsy/seizure-types
This section includes a summary of information from major published articles. It highlights how many people have different symptoms. To learn more about the articles, see the Sources and references section of this guide.
Behavior and development concerns linked to DEAF1-related syndrome
Speech and learning
People with DEAF1-related syndrome had developmental delay or intellectual disability, and speech delay and/or impairment.
- 36 out of 36 people had developmental delay or intellectual disability (100 percent)
- 34 out of 35 people had speech delay and/or impairment (97 percent)
Behavior
Many people with DEAF1-related syndrome had behavioral issues, such as autism, mood swings, fascinations, or aggressive behavior.
- 31 out of 35 people had autism (89 percent)
- 25 out of 28 people had mood swings (89 percent)
- 19 out of 26 people had fascinations (73 percent)
- 16 out of 26 people had aggressive behavior (62 percent)
Graphs
100%
80%
60%
40%
20%
0
Brain
People with DEAF1-related syndrome had neurological medical issues, including seizures, such as generalized seizures, partial seizures, or unknown seizure types.
- 21 out of 27 people had seizures (78 percent)
- 18 out of 27 people had generalized seizures (67 percent)
- 2 out of 27 people had partial seizures (7 percent)
- 1 out of 27 people had unknown seizure types (4 percent)
Graphs
100%
80%
60%
40%
20%
0
Other neurological issues included abnormal walking pattern, poor muscle control that causes clumsy movements (ataxia), sleep challenges, a larger than average head size (macrocephaly), and brain changes seen on magnetic resonance imaging (MRI).
- 22 out of 30 people had an abnormal walking pattern (73 percent)
- 16 out of 23 people had ataxia (70 percent)
- 25 out of 30 people had sleep challenges (83 percent)
- 4 out of 28 people had macrocephaly (14 percent)
- 8 out of 25 people had brain changes seen on MRI (32 percent)
Graphs
100%
80%
60%
40%
20%
0
Medical and physical concerns linked to DEAF1-related syndrome
Several people with DEAF1-related syndrome had a high pain threshold, feeding difficulties, constipation, and recurrent infections.
- 21 out of 26 people had a high pain threshold (81 percent)
- 13 out of 27 people had feeding difficulties (48 percent)
- 18 out of 20 people had constipation (90 percent)
- 18 out of 27 people had recurrent infections (67 percent)
Where can I find support and resources?
The DAND Alliance
The DAND Alliance is a 501(c)3 nonprofit committed to advancing awareness, understanding, and treatment of DEAF1-Associated Neurodevelopmental Disorders (DAND): the Vulto-van Silfhout-de Vries Syndrome (VSVS) and NEDHELS Syndrome.
Through community engagement, scientific research, and collaborative partnerships, The DAND Alliance aims to improve the quality of life for affected individuals and their families.
Simons Searchlight
Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”
- Learn more about Simons Searchlight – www.simonssearchlight.org/frequently-asked-questions
- Simons Searchlight webpage with more information on DEAF1 – www.simonssearchlight.org/research/what-we-study/deaf1
- Simons Searchlight DEAF1 Facebook community– https://www.facebook.com/groups/deaf1
Sources and References
- Rebelo Procaci, V., Goulart, L. I., Ferraz, H. B., Povoas Barsottini, O. G., & Pedroso, J. L. (2024). Complex movement disorders associated with DEAF1 gene mutation. Parkinsonism & Related Disorders, 126, 107055. doi:10.1016/j.parkreldis.2024.107055
- Zhu, H., Zhu, S., Jiang, Q., Pang, Y., Huang, Y., Chen, Y., Hou, T., Deng, W., Liu, X., … & Luo, Z. (2023). Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: A case report and literature review. Frontiers in Neurology, 14, 1251467. doi:10.3389/fneur.2023.1251467