Cornelia de Lange syndrome or CdLS is a rare birth disorder that affects approximately 1 in 10,000-30,000 live births.
The disorder affects just as many males as females and causes severe physical and developmental abnormalities. Typical symptoms of Cornelia de Lange syndrome include low birth weight, failure to thrive, developmental delays, limb defects, a small head, thin eyebrows that meet in the middle, long eyelashes, crescent shaped mouth, short nose, increased body hair, small hands, small feet, wide spaced teeth, vision complications, hearing complications, cleft palate, feeding complications, heart defects, partial joining of the toes, low-set ears, GERD and seizures.
Doctors dianose this condition based upon a physical examination. While there is no cure for CdLS, treatment options are available to help the child cope with the disorder. This involves a variety of therapeutic treatments that can help the child focus on their strengths and develop their weaknesses.
select * from birthdefectscomments where id="375722943" Comments 1 to 2 of about 2.
1070 days ago.
I hope ur daughter is doing well and I wish u an ur family all the best. Sophia sounds wonderful. Congratulations on ur daughter
1082 days ago.
Wow, I'm the first post in the CDLS forum. My daughter was born with CDLS on 11/24/09. Sophia was taken 6 weeks early via c-section. During my pregnancy we knew something was going on because of her arm anomolies. We had the amnio and caryotype study but everything came back negative. The reason for this is because the doctors thought Sophia was missing her raduis bones prenatally and not her ulnas so everything that was tested for were syndromes related to missing radius. Children with CDLS tend to drop off in growth during the 3rd trimester which is what Sophia did and the reason my doctors delivered her early. Knowing what I know now, I probably would have opted not to deliver her early because now I know her lack in growth was due to the CDLS. Still at the time we did what was best for her. Sophia was born at 34 weeks weighing only 3 lbs 1 oz and 14 inches long. What I want every expecting mom to know and understand is that during your pregnancy you will be terrified to see your child and their 'differences' but once you lay eyes on your baby nothing matters. I dont even see Sophia's differences anymore. She has ALL of the features related to CDLS. She wears glasses and hearing aids and at 6 monthls old she's only 7.5 pounds. Sophia is the LOVE of my life and I wouldnt change a thing about her. Doctors can diagnose CDLS with genetic testing and we had Sophia tested at birth because of her physical features. If you would like to know more about this condition please contact me. My personal email is firstname.lastname@example.org
Leave a message Become a member to be able to comment.
(Sign up) It's all free, no email is required.