About FOXG1

FOXG1 Syndrome is a rare neuro-developmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. This severe condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of our children cannot walk or talk, and they struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FOXG1 are non-inherited and have no family history. There is no cure for the FOXG1 Syndrome, but with medications, physical and speech therapy and nutritional support to help manage symptoms and prevent complications, a stable quality of life can be achieved. Below are a list of observed symptoms as noted by parents of children with FOXG1. Please note, not all symptoms are present in each child.

Physical Symptoms

  • Microcephaly (small head measurement)
  • Thin or underdeveloped corpus callosum (the tissue that connects the right and left halves of the brain), often referred to as PACC (partial agenesis of the corpus callosum) or ACC (agenesis of the corpus callosum)
  • Reduced folds and grooves on the surface of the brain
  • Smaller than usual amount of brain tissue known as white matter
  • Seizures
  • Low muscle tone
  • Small hands and feet
  • Bladder retention
  • Bladder retention
  • High palates
  • Strabismus
  • Teeth-grinding
  • Sleep disturbances
  • Reflux
  • Constipation
  • Temperature regulation issues
  • Flushing and/or low tolerance of heat
  • Increased susceptibility to illness
  • Higher-than-average pain tolerance
  • Spontaneous laughter and/or crying

Developmental symptoms

  • Most children cannot sit or walk without assistance
  • Most have near absence of speech and language skills
  • Feeding problems (most are G-tube fed)
  • Non-ambulatory or delayed gross and fine motor skills
  • Limited purposeful use of hands
  • Repetitive behaviors (hand washing, hand wringing, clasping hands)
  • Irritability and excessive crying
  • Poor eye contact
  • Regression (very rare)
  • Love of water and music

Associated conditions & disorders

  • Autism Spectrum Disorders (ASD)
  • Sensory Processing Disorder (SPD)
  • Vision problems (Cortical Visual Impairment)
  • Movement disorders