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Quinn Bradless VCFS Syndrome Topic Of A Book

2009-04-03 11:21

Quinn Bradless is a yound adult with Velo-Cardio-Facial Syndrome (VCFS) who has written a book and launched FriendsOfQuinn.com. It is his way of helping others understand the sense of isolation and depression he and others with learning disabilities often face.

Approximately fifteen million people in the U.S. are affected by a learning disability. Quinn hopes visitors with learning disabilities will find FriendsOfQuinn.com a place to share stories, get advice and support each other.

The name velocardiofacial syndrome (VCFS) comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.

VCFS was recognized in 1978 by Dr Robert J Shprintzen. It is now known to be the most common syndrome associated with a cleft palate. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

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Even though the cause of VCFS is unknown, it is known to be a genetic disorder. Although the gene or genes that cause VCFS have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. VCFS is an autosomal dominant disorder which means that only one parent needs to have the gene for VCFS in order to pass it along to their children.

There is great variation in the features of this syndrome. At least 30 different problems have been associated with VCFS. None of these problems occur in all cases. The list includes: cleft palate, usually of the soft palate; heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); learning difficulties; eye problems; feeding problems because of the cleft palate; hypoparathyroidism; weak muscles; short height; curvature of the spine (scoliosis); and tapered fingers. Children are born with these features which do not worsen with age.

Cleft palate is the fourth most common birth defect affecting approximately one of every 700 live births. VCFS occurs in approximately 5 to 8 percent of children born with a cleft palate. It is estimated that over 130,000 individuals in the United States have this syndrome.

Sources
Times Online (excerpt from A Different Life by Quinn Bradlee, to be published by PublicAffairs, a member of the Perseus Books Group, on May 7, 2009)
National Institute of Health
Velo-Cardio-Facial Syndrome Education Foundation, Inc

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