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