The anticipated goals of these meetings are to stimulate the study of cohesinopathies will improve overall clinical understanding of these conditions as well as an understanding of their molecular etiologies. We anticipate that as at previous meetings, new, unpublished information on CdLS will be disseminated, and that this will encourage new research by the participants, and potential new collaborative efforts.
Characteristics of CdLS: As with many other syndromes, individuals with CdLS strongly resemble one another. Typical facial features include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips.
Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Other features may include excessive body hair and small hands and feet. Common medical issues include gastro- esophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with CdLS. Behavioral and communication issues and developmental delays often exist.
Major Characteristics of CdLS: CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only a select few. Geneticists establish the diagnosis after evaluating all the criteria.
you can find more on CdL Foundation on http://www.cdlsusa.org/about-cdls-foundation/our-history.htm.
Contact for additional information:
Lorette C. Javois, Ph.D.
Additional Information: Conference Web Site