Blog Archive

Sunday, May 3, 2009

Cornelia de Lange Syndrome awareness

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, over at God's Grace in Practice has a young son who has Cornelia de Lange Syndrome, and is trying to spread awareness of this condition. If you would like to learn more, stop by her blog, or just top by to say hi! =)


heidi @ ggip said...

Thanks so much for helping me out in spreading awareness. It is important for many reasons including so that the people out there with milder cases of CdLS can get diagnosed and get the services and medical treatment they need.

Thanks again and good luck!

(I can probably fix the "earrings" link, let me try..."

Rachelle said...

Thank you for spreading awareness about CdLS. Your help and support is greatly appreciated!