Down syndrome

Down syndrome is a congenital genetic disorder in which individuals are born with an extra copy of chromosome 21. The presence of an extra chromosome causes mild to moderate intellectual disability, as well as increased risk for certain medical conditions, such as congenital heart defects, leukemia, various autoimmune disorders, vision and hearing problems, digestive problems, sleep disorders, and others. For reasons no one yet understands, the severity of these conditions varies among individuals.

For more information please refer to the Jerome LeJeune Foundation: http://lejeuneusa.org

For additional information, please refer to the National Down Syndrome Society: http://www.ndss.org

Moebius Syndrome

Moebius syndrome is a rare neurological disorder that is present at birth.  It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.

Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th.  There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present.  Approximately 30% of children with Moebius syndrome are on the autism spectrum.

For more information, please visit the Moebius Syndrome Foundation website: http://www.moebiussyndrome.com

 

Albinism

Albinism is a recessive genetic condition that causes the absence or reduction of pigmentation in the hair, skin and eyes.

For more information, please visit website for the National Organization for Albinism and Hypopigmentation: www.albinism.org