About FOXG1 Syndrome

C91178c0 A44e 478b 8b49 459c60efe1a3 226x300FOXG1 syndrome is a rare genetic condition that affects early brain development. It is caused by changes (mutations or deletions) in the FOXG1 gene, which plays an important role in how the brain grows and functions. Children with FOXG1 syndrome often show signs in infancy.

These may include developmental delays, seizures, movement difficulties, feeding or sleep challenges, irritability, and a smaller-than-average head size (called microcephaly). Every child is unique, and symptoms can vary in severity.

There is currently no cure for FOXG1 syndrome, but many treatments can help support a child’s development and quality of life. These may include physical, occupational, and speech therapies, along with medications to help manage seizures and other symptoms.

Most cases of FOXG1 syndrome happen by chance and are not inherited from a parent. Early diagnosis is important because it allows families to access therapies, medical care, and support services as early as possible.

Researchers around the world are actively working to better understand FOXG1 syndrome and to develop new treatments for the future. Families are not alone, and ongoing research continues to bring hope.

A Rare Genetic Disorder

A rare genetic disorder is a disease caused by changes (mutations) in a person’s DNA that affects only a small number of people in the population.

“Genetic” means it’s related to genes and in the majority of cases of FOXG1 Syndrome it happens spontaneously (de nouvo).


“Rare” usually means it affects fewer than 1 in 2,000 people (in the EU).
Studies and patient registry data estimate that FOXG1 syndrome occurs in approximately 1 in 30,000 live births. (FOXG1 Research Foundation)

At the time of recent reports, there are around 1,000–1,500 diagnosed individuals worldwide, with the number increasing as genetic testing becomes more available.

Some epidemiological research suggests a prevalence of roughly 0.6–2.2 cases per 100,000 children (i.e., about 6–22 per million), based on large cohorts of patients with severe neuro developmental conditions; this supports the idea that FOXG1 syndrome may be more common than early case counts alone would indicate.

FOXG1 gene mutations affect how the brain develops and functions. Symptoms are present from birth.


What FOXG1 Can Look Like for Our Children

FOXG1 syndrome mainly affects brain development, so its symptoms are neurological and begin very early in life (often in infancy). The severity can vary, but there’s a fairly consistent pattern. It is important to note that there is a very wide spectrum of ability  among the FOXG1 community. The symptoms experienced by individuals is partly dependent on the particular genetic mutation a person has. If your child is newly diagnosed, the following list can be very over whelming so it is important to discuss with your medical team who may be able to guide you as how much your child’s particular genetic mutation may impact their development. as awareness of the syndrome grows it is possible that more children with milder symptoms will be diagnosed.

Common Symptoms in FOXG1 Syndrome

Neurodevelopmental
  • Severe or moderate developmental delay (little or no speech, limited motor skills)
  • Intellectual disability 
  • Microcephaly (small head size), often developing after birth
  • Low muscle tone (hypotonia) early on, sometimes progressing to stiffness or spasticity
Movement & Motor Control
  • Abnormal involuntary movements (jerky, twisting, or writhing motions)
  • Poor coordination and balance
  • Limited ability to sit, stand, or walk independently 
Seizures
  • Epilepsy is very common
  • Seizures often begin in infancy and can be difficult to control. (A few children have no seizures)
Feeding & Growth
  • Feeding difficulties (poor sucking, swallowing issues)
  • Gastroesophageal reflux
  • Slow weight gain; some require feeding tubes
Behavior & Communication
  • Minimal or absent speech (some individuals have some speech but nearly all will need speech, language and communication support)
  • Limited eye contact in some individuals, cortical visual impairment.
  • Features that can resemble autism spectrum disorder, though FOXG1 is distinct
Sleep & autonomic issues
  • Severe sleep disturbances
  • Episodes of unexplained crying or irritability
  • Temperature regulation or breathing irregularities (in some cases)

Our Vision

“To ensure that no family affected by FOXG1 syndrome ever feels alone, and that every child receives the support they deserve.”

Our Mission

“To drive understanding, care, and breakthroughs for FOXG1 syndrome —improving lives today while working toward better treatments tomorrow.”

 

Our Values

We lead with empathy, understanding, and kindness toward every family and individual affected by FOXG1 syndrome.