Azur Health Science, experts in medical writing in Europe boosts visibility for rare diseases, giving patients, children, and families recognition and support.

Each month, we highlight a rare disease to raise awareness and encourage research.

This month, we focus on FOXG1 syndrome, one of the rarest neurological conditions in the world, primarily affecting children. Due to its rarity and lack of visibility, many families face delayed diagnoses and limited access to appropriate care. By spotlighting these conditions, we hope to inspire greater scientific interest and accelerate progress toward better understanding and treatment.

FOXG1 syndrome is a rare neurodevelopmental disorder caused by mutations in the FOXG1 gene, which plays a critical role in early brain development—even before birth. These mutations disrupt the formation of key brain structures, leading to severe developmental delays and lifelong disabilities.

Initially, children with FOXG1 syndrome were misdiagnosed with conditions like Rett syndrome, due to overlapping symptoms such as:

• Microcephaly (small head size)
• Epilepsy
• Severe cognitive and motor impairments
• Inability to walk or speak
• Sleep disturbances
• Autistic-like behaviors

However, further genetic research revealed that these children had mutations in a different gene—FOXG1—leading to the identification of a distinct syndrome.

Think of it like two books with similar covers but completely different stories inside.

As of today, only around 1,400 cases of FOXG1 syndrome have been diagnosed worldwide. The condition affects both boys and girls and is typically caused by de novo mutations, meaning they occur spontaneously and are not inherited from parents.

Despite its rarity, the number of diagnosed cases is growing thanks to improved access to genetic testing and increased awareness among healthcare professionals. In France, the Association FOXG1 France plays a key role in supporting families and promoting early diagnosis.

There is currently no cure for FOXG1 syndrome. However, several interventions can significantly improve the quality of life for those affected.

Genetic testing is a key step in diagnosing the condition, often following a long and emotional journey for families seeking answers.

In France, clinicians benefit from a national diagnostic and care protocol that helps them identify symptoms and provide guidance to families.

Therapeutic approaches—including physical, occupational, and speech therapy—play a vital role in helping children develop motor and communication skills.

Additionally, medications are used to manage symptoms such as seizures, sleep disturbances, and feeding difficulties.

There is currently no cure for FOXG1 syndrome. However, several interventions can significantly improve the quality of life for those affected.

Genetic testing is a key step in diagnosing the condition, often following a long and emotional journey for families seeking answers.

In France, clinicians benefit from a national diagnostic and care protocol that helps them identify symptoms and provide guidance to families.

Therapeutic approaches—including physical, occupational, and speech therapy—play a vital role in helping children develop motor and communication skills.

Additionally, medications are used to manage symptoms such as seizures, sleep disturbances, and feeding difficulties.

Raising awareness is the first step toward change. Visibility leads to recognition, which drives research funding, early diagnosis, and ultimately, better treatments. By highlighting FOXG1 syndrome, we hope to:

– Empower families with knowledge and community

– Encourage researchers to explore new therapeutic avenues

– Help healthcare professionals recognize symptoms earlier

The more we talk about rare diseases, the less invisible they become.

FOXG1 Research Foundation: https://www.foxg1research.org/

Association FOXG1 France: https://foxg1france.fr/

GARD – Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome

Children’s Hospital of Philadelphia: https://www.chop.edu/conditions-diseases/foxg1-syndrome

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