What is FOXG1 Syndrome?

Main Symptoms and Features

FOXG1 Syndrome is a rare genetic developmental disorder. That means that it is present from birth. The majority of cases are caused by a de nouvo mutation in the FOXG1 gene. The key features are:-

  • developmental disorder
  • microcephaly
  • movement disorder
  • seizures

People diagnosed with the syndrome have a wide spectrum of symptoms. Some are severely affected by the syndrome others not so much. However the majority have some level of disability that has a significant impact on their lives.

Other common symptoms are:-

  • feeding difficulties
  • agenisis of the corpus colosseum
  • lack of speech (some speak but have severe speech, language and communication difficulties)
  • inability to walk 
  • difficulty with sleep
  • constipation
  • gastric reflux
  • learning disability
  • scoliosis

Other uncommon reported symptoms:-

  • pancreatitis
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