EIF3F-Related Syndrome

EIF3F-related syndrome happens when there are changes in the EIF3F 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 the same biological parents to a child with an autosomal recessive genetic condition, having another child who has EIF3F-related syndrome is almost always 25 percent.
• The chance of two carrier parents having a child who is also a carrier is 50 percent. Carriers are not expected to have symptoms. 
• The chance of them having a child who is not a carrier at all is 25 percent.

For a person who has EIF3F-related syndrome, the risk of having a child who has the same syndrome depends on their partner.

• If their partner is a carrier, they have a 50 percent chance of having a child who has the syndrome and a 50 percent chance of having a child who is a carrier. 

If their partner is not a carrier, they have nearly a 0 percent chance of having a child who has the syndrome and a 100 percent chance of having a child who is a carrier.

As of 2025, about 31 people with EIF3F-related syndrome have been described in medical research.

People who have EIF3F-related syndrome may look different. Appearance can vary and can include some but not all of these features:

• Smaller than average head size
• Ears that are rotated backward
• Shorter than average height
• Deep-set nails

Scientists and doctors have only just begun to study EIF3F-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 EIF3F-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 EIF3F-related syndrome had developmental delay or intellectual disability, and speech and/or language impairment. Three people had a regression in cognitive abilities at ages 2 and a half, 21, and in adulthood.

• 31 out of 31 people had developmental delay (100 percent)
• 18 out of 18 people had intellectual disability (100 percent)
• 22 out of 22 people had speech and/or language impairment (100 percent)
• 5 out of 21 people had absent speech (24 percent)

Behavior

People with EIF3F-related syndrome had behavioral issues, such as autism, sensory issues, attention-deficit/hyperactivity disorder (ADHD), aggressive behavior, obsessive-compulsive disorder, anxiety, or pica.

• 19 out of 31 people had behavioral challenges (61 percent)
• 7 out of 22 people had autism or features of autism (32 percent)

Brain

Some people with EIF3F-related syndrome had neurological medical issues, including seizures, changes in muscle tone, sleeping challenges, and nonspecific findings seen on brain magnetic resonance imaging (MRI).

• 9 out of 28 people had seizures (32 percent)
• 11 out of 22 people had changes in muscle tone (50 percent)
• 4 out of 13 people had sleeping challenges (31 percent)
• 8 out of 20 people had nonspecific findings seen on brain MRI (40 percent)

Vision and hearing

People with EIF3F-related syndrome had vision and hearing issues. Vision issues included farsightedness (hyperopia), nearsightedness (myopia), crossed eyes (strabismus), eyes that move rapidly without control (nystagmus), and an area of missing tissue in the eye (coloboma).

• 8 out of 21 people had farsightedness or nearsightedness (38 percent)
• 4 out of 30 people had crossed eyes (13 percent)
• 16 out of 31 people had hearing loss (52 percent)

Feeding and digestion issues

Sometimes people with EIF3F-related syndrome had feeding issues, such as poor sucking or slow feeding, and digestive issues, such as diarrhea, constipation, reflux, and gastroesophageal reflux disease (GERD).

• 5 out of 21 people had feeding difficulties (24 percent)

Growth

People with EIF3F-related syndrome had a diagnosis of smaller than average head size at birth (microcephaly), or they had it later in development. Similarly, people were shorter than average at birth, or they were short in height later in life.

• 4 out of 12 people had microcephaly at birth (33 percent)
• 7 out of 27 people had microcephaly later in development (26 percent)
• 3 out of 16 people were shorter than average at birth (19 percent)
• 9 out of 24 people were shorter than average later in life (38 percent)

EIF3F Research Foundation 

The EIF3F Research Foundation is a non-profit organization dedicated to drive treatment development for ultra-rare neurodevelopmental disorder (OMIM #618,295: intellectual developmental disorder, autosomal recessive 67) caused by mutation in EIF3F gene. Their aim is to improve the quality of life for affected patients and their families. They anchor our efforts on interdisciplinary and international cooperation, building and fortifying patient-scientists-clinicians partnership and sharing experience with other research foundations.

• https://eif3fresearch.org/

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 EIF3F – www.simonssearchlight.org/research/what-we-study/eif3f
• Simons Searchlight Facebook Group – https://www.facebook.com/groups/eif3f