NCKAP1-Related Syndrome

NCKAP1-related syndrome happens when there are changes in the NCKAP1 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 NCKAP1-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 NCKAP1-related syndrome, the sibling’s risk of having a child who has NCKAP1-related syndrome depends on the sibling’s genes and their parents’ genes. 

• If neither parent has the same genetic variant causing NCKAP1-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit NCKAP1-related syndrome. 

As of 2025, over 25 people with NCKAP1-related syndrome have been identified in medical research.

People who have NCKAP1-related syndrome may look different. People have distinctive facial features, but these features are quite variable.

Scientists and doctors have only just begun to study NCKAP1-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 NCKAP1-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: www.epilepsy.com/learn/types-seizures.

Speech and learning

Most people with NCKAP1-related syndrome had developmental delays or intellectual disabilities, and speech delays or impairment.

• 11 out of 15 people had developmental delays or intellectual disabilities (73 percent)
• 12 out of 17 people had speech delays or impairment (71 percent)

Behavior

People with NCKAP1-related syndrome had behavioral issues, such as autism or features of autism, repetitive behavior, aggressive behavior, attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, obsessive behavior, or self-injury behavior.

• 11 out of 15 people had autism or features of autism (73 percent)
• 9 out of 13 people had repetitive behavior (69 percent)
• 8 out of 14 people had aggressive behavior (57 percent)
• 7 out of 13 people had ADHD (54 percent)
• 4 out of 10 people had anxiety (40 percent)
• 3 out of 13 people had depression (23 percent)
• 3 out of 11people had obsessive behavior (27 percent)
• 1 out of 13 people had self-injury behavior (8 percent)

Brain

Some people with NCKAP1-related syndrome had neurological issues, including brain changes seen on magnetic resonance imaging (MRI), seizures, and either a smaller than average head size (microcephaly) or a larger than average head size (macrocephaly).

• 2 out of 16 people had brain changes seen on MRI (13 percent)
• 7 out of 17 people had seizures (41 percent)
• 1 out of 16 people had microcephaly (6 percent)
• 2 out of 15 people had macrocephaly (13 percent)

Growth and development

People with NCKAP1-related syndrome had sleep issues, were tall, were overweight, and had skeletal defects. Some people had gastrointestinal issues.

• 9 out of 15 people had sleep issues (60 percent)
• 6 out of 16 people were tall (38 percent)
• 4 out of 16 people were overweight (25 percent)
• 4 out of 12 people had skeletal defects (33 percent)
• 4 out of 16 people had gastrointestinal issues (25 percent)

Vision and hearing

Few people with NCKAP1-related syndrome had visual and hearing impairment.

• 3 out of 12 people had visual impairment (25 percent)
• 2 out of 15 people had hearing impairment (13 percent)

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 NCKAP1: www.simonssearchlight.org/research/what-we-study/NCKAP1

• Simons Searchlight NCKAP1 Facebook community: https://www.facebook.com/groups/nckap1