Below is a listing of some of the syndromes we have treated in our practice and websites families have found helpful. The National Organization of Rare Disorders www.rarediseases.org is a general resource for families searching for support and information about a rare disease or syndrome
www.rarechromo.org is also an extensive resource for rare chromosomal anomalies. If you would like us to post information about a syndrome that has impacted you or your family please feel free to contact us.
Fragile X syndrome is the most common inherited form of mental impairment and autism. It affects one in 4,000 boys and one in 6,000 girls. Read more about Fragile X Syndrome here. Prader Willi Syndrome is a genetic disorder causing obesity, developmental delay, and other problems. For more information go to Prader Willi Syndrome USA . Also view the ABOUT tab on this website and look under Staff to learn more about one parent’s personal experience with PWS.
Tuberous Sclerosis is a genetic disorder where children may have a variety of medical problems related to the growth of small tumors throughout the body. It is a common cause of infantile seizures and Autism. For more information www.tsaalliance.org
Aicardi Syndrome is a relatively rare genetic disorder resulting in seizures and developmental delay. For more information www.aicardisyndrome.org
Neurofibromatosis is a genetic disorder ranging from mild to severe where small tumors grow on nerves throughout the body. For more information go to www.nfinc.org
Angelman’s Syndrome is a rare disorder characterized by developmental delay, lack of speech, seizures, and problems with balance. It is often misdiagnosed as Cerebral Palsy or Autism. For more information go to www.angelman.org