ZNF292-related syndrome happens when there are changes to the ZNF292 gene. These changes can keep the gene from working as it should.

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 ZNF292-related syndrome depends on the genes of both birth parents.

• If neither birth parent has the same gene change 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 change in the gene.
• If one birth parent has the same gene change found in their child, the chance of having another child who has the syndrome is 50 percent.

For a symptom-free sibling, a brother or sister, of someone who has ZNF292-related syndrome, the risk of having a child who has the syndrome depends on the symptom-free sibling’s genes and their parents’ genes.

• If neither parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who has ZNF292-related syndrome.
• If one birth parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a small chance of also having the same gene change. If the symptom- free sibling has the same gene change as their sibling who has the syndrome, the symptom-free sibling’s chance of having a child who has ZNF292-related syndrome is 50 percent.

For a person who has ZNF292-related syndrome, the risk of having a child who has the syndrome is about 50 percent.

As of 2024, at least 80 people with ZNF292-related syndrome have been identified in a medical clinic. The first case of ZNF292-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

People who have ZNF292-related syndrome may look different. Appearance can vary and can include some but not all of these features:

• A very small lower jaw
• Widely spaced eyes
• Lower-set ears
• Shorter than average height
• Lower or higher than average muscle tone

Scientists and doctors have only just begun to study ZNF292-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 ZNF292-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

Learning

Almost everyone studied to date who had ZNF292-related syndrome had intellectual disability or developmental delay.

Mild delays were most common, followed by moderate, and severe delays.

• 11 out of 27 people had mild delays.
• 6 out of 27 people had moderate delays.
• 3 out of 27 people had severe delays.

Speech

Almost everyone had speech delays.

• 26 out of 27 people had speech delays (96 percent).

Behavior

More than one-half had autism or symptoms of autism. One-third had attention deficit hyperactivity disorder, also called ADHD.

• 17 out of 27 people had autism (63 percent).
• 9 out of 27 people had ADHD (33 percent).

Muscle tone

About one-half had changes in muscle tone, including low muscle tone or tight or stiff muscles.

• 13 out of 27 people had changes in muscle tone (48 percent).

Brain

Of those who had a medical test called an MRI that looks at the structure of the brain, about one-half had changes in brain structure.

• 9 out of 17 people had changes in brain seizures (53 percent).

Growth

More than one-third had slow growth or short height.

• 11 out of 27 people had slow growth or short height (41 percent).

Feeding and digestion issues

Less than one-third had feeding issues.

• 8 out of 26 people had feeding issues (31 percent).