Conigenital Variant Retts Syndrome/FOXG1 Gene Disorder

Welcome! Our son, Jacob, was diagnosed with Congenital Variant Retts Syndrome in 2009. It is a newly discovered syndrome on the FOXG1 gene and falls under the Angelman Syndrome family, not on the Autism Spectrum. It can be characterized by severe developmental delay, low muscle tone/spasticity, vision issues, brain anomalies, sleep issues, seizures, speech issues and extreme irritability during the first year of life. Personally, we've also seen teeth grinding, constant oral stimulation, but also an overall happy disposition and an intense love of music! I'm hoping to find other people who have the same diagnosis, are being tested or looking for more information. We're here to share the good and bad, highs and lows, frustrations and those moments of joy. Welcome!

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study

i was contacted by a dr. helen leonard from irsf...they are doing a study on all types of rett syndrome..its just a questionaire...she asked if i knew of anyone else with foxg1...