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Genetic Diseases

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About the Ectodermal Dysplasia Syndromes: Frequently Asked Questions   External Link

The ectodermal dysplasia (ED) syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. ED syndromes affect both males and female... Details >

National Foundation for Ectodermal Dysplasias  External Link

Achromatopsia Network   External Link

This is the home page to Achromatopsia Network. The purpose of this website is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision ... Details >

Achromatopsia Network  External Link

Alpha-1-antitrypsin Deficiency - A Simplified Description  External Link

Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease.... Details >

Alpha1 Association  External Link

Basic Facts about Von Hippel-Lindau (VHL)  External Link

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 >

VHL (Von Hippel-Lindau) Family Alliance  External Link

Chapters and Groups: United Mitochondrial Disease Foundation  External Link

In this page you can find chapters and groups by area in the United State.... Details >

The United Mitochondrial Disease Foundation  External Link

Characteristics of Fragile X Syndrome   External Link

This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >

National Fragile X Foundation  External Link

Clinical Features of Shwachman-Diamond Syndrome  External Link

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 >

Shwachman-Diamond America  External Link

Clinics - National Down Syndrome Congress  External Link

This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... Details >

National Down Syndrome Congress  External Link

Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know  External Link

This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >

National Adrenal Diseases Foundation  External Link

Family Connection: Cystinosis Research Foundation  External Link

This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >

Cystinosis Research Foundation  External Link