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This document describes two hereditary conditions: Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC). The importance of genetic testing and counseling is emph... Details >
The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and developmen... Details >
This is the home page to Achromatopsia Network. The purpose of this Web site is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision... Details >
This page provides basic facts about Von Hippel-Lindau (VHL), a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels.... Details >
In this page you can find chapters and groups by area in the United State.... Details >
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault t... Details >
This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... Details >
This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >