Saturday, May 2, 2009

Raising Awareness

My bloggy friend, Heidi, over at God's Grace In Practice, is hosting a contest aimed at increasing awareness of Cornelia de Lange Syndrome (CdLS). May 9th is the 20th annual Cornelia de Lange Syndrome Awareness day. Heidi's precious little boy, also known as Blue and pictured here, was born with this congenital syndrome. He's an adorable little guy and I've so loved reading about this family's journey with their son. Take a minute to read this post and the information about CdLS and then head over to this post and enter the contest. You could win a gift card to Amazon (and who doesn't love Amazon?!) AND have a donation in your honor sent to the CdLS Foundation!

The Cornelia de Lange Syndrome Foundation exists to raise awareness about the condition, foster research about the syndrome and provides extremely valuable support and information to CdLS families. It is also the best place on the web to learn about CdLS. From their website:

CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.

As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.


heidi @ ggip said...

Thanks so much for helping me spread the word. I changed your link on the link list so it would go directly to your post. I think some people might be a bit shy about doing their post:)

Good luck, at this point you are a shoo-in to win.

Rachelle said...

Thank you for doing a post about CdLS. We greatly appreciate your help and support!