What is the Difference Between an Association and a Syndrome?

Discussion VATER association was first described in the 1970s with additional congenital malformations being added to the association so it is most often called VACTERL association. It is a highly heterogeneous, overlapping condition estimated to occur in ~1/10,000-40,000 births. The cause is unknown. In animal models, some signaling pathway gene mutations have phenotypes of VACTERL association. Experts suggest that patients having at least 2 components should be further evaluated (at least 3 for diagnosis) for VACTERL and other diseases in its differential diagnosis. There are more than 30 syndromes, mutations and diseases that have components of the malformations in VACTERL association. Alagille syndrome , CHARGE Syndrome, Blackfan-Diamond anemia, Holt-Oram syndrome, and Caudal regression syndrome are just a few examples. All signs and symptoms can be obvious or extremely subtle. Some symptoms may not occur until years later or be surreptitious. Most patients do not have all of the components. Facial and brain malformations are not common with VACTERL association. Treatment depends on the specific malformations and their extensiveness. Surgical treatment is often necessary to manage one or more problems. Components of the VACTERL association include: Vertebral malformation Occurs in 60-90% of patients Usually segmentation defects, can occur in any vertebrae Can also have rib anomalies and/or spinal curvature Can also have tethered cord and/or similar neurological anomal...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Source: Daily Express - Health - Category: Consumer Health News Source Type: news
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Source: Daily Express - Health - Category: Consumer Health News Source Type: news
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