Genetics of Disease

  • A Guide to Meckel-Gruber Syndrome

    Meckel-Gruber syndrome is a rare and lethal inherited disease, which causes devastation to families with an affected child. Unfortunately, there is currently no known cure.
    By Emjay Annavi Baclay October 23, 2010 

  • Cleidocranial Dysplasia Overview

    Learn what causes cleidocranial dysplasia and what can be done about it. Know all the signs and symptoms to stay informed.
    By Blaise Wellesley October 22, 2010 

  • Larsen Syndrome Guide

    A diagnosis of Larsen Syndrome can be devastating and if you are looking for simple to understand answers on the symptoms, description, genetic inheritance, treatment and management of Larsen Syndrome, then you have come to the right place.
    By Superbwriter October 21, 2010 

  • An Overview of Cornelia de Lange Syndrome

    Learn the causes of Cornelia de Lange syndrome and how it can influence human development. Notice the signs and symptoms while looking at treatment options.
    By Blaise Wellesley October 21, 2010 

  • An Overview of Cornea Plana Congenita

    Cornea plana congenita is an abnormality in the cornea of the eyes, associated with mutations in the KERA gene, with subtypes that vary based on the severity and pattern of inheritance.
    By Emjay Annavi Baclay October 21, 2010 

  • Dubowitz Syndrome Guide

    An extremely rare genetic and developmental disorder, Dubowitz syndrome is caused by a mutation in a gene that has yet to be identified. Read on to learn the genetics, symptoms, diagnosis, treatment and prognosis of this disorder.
    By J.Sace October 21, 2010 

  • A Guide to Hallervorden-Spatz Syndrome

    Hallervorden-Spatz Syndrome is a debilitating genetic disorder that strikes in early childhood and almost always leads to death before adulthood. Read on to learn all about this devastating disorder and what is known about its underlying genetic causes...
    By bjlbyron October 21, 2010 

  • GRACILE Syndrome Guide

    GRACILE syndrome, a Finnish heritage disease, is a genetic metabolic disorder. This article discusses the symptoms, genetics, prevalence, prognosis and treatment of this syndrome
    By Finn Orfano October 21, 2010 

  • Stickler's Syndrome Overview

    Also known as hereditary progressive arthro-ophthalmopathy, Stickler’s syndrome is a genetic disorder that affects multiple parts of the body including the joints, bones, ears, eyes and face. Read on to learn the genetics, symptoms, diagnosis, prevalence...
    By J.Sace October 21, 2010 

  • A Guide to Langer-Giedion Syndrome

    Learn about Langer-Giedion Syndrome, its symptoms, genetic testing, diagnosis, genetic inheritance and treatment or patient management of this condition.
    By Superbwriter October 21, 2010 
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