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Inherited Traits & Mutations

  • An Overview of Familial Hypercholesterolemia

    Familial hypercholesterolemia is a disease that is usually inherited from one parent in an autosomal dominant manner. It is characterized by high levels of cholesterol. In rare cases both parents may pass on the mutated gene.
    Published by DulceCorazon (266 pts) on Nov 3, 2009 to
    Genetics Articles

  • What is Leber Congenital Amaurosis?

    Leber congenital amaurosis (LCA) is a rare genetic disorder affecting the eye. It is characterised by a severe loss of vision from birth or shortly afterwards. Vision gradually deteriorates and can ultimately lead to blindness. A number of causative genetic mutations have been identified.
    Published by Paul Arnold (15377 pts) on Oct 25, 2009 to
    Genetics Articles

  • Elephant Man Disease FAQ

    For the first few years of his life Joseph Merrick "The Elephant Man" developed normally. But then small bumps started to appear on his face. He had been struck by a disorder now known as Proteus syndrome. Find out more in our FAQ.
    Published by Paul Arnold (15377 pts) on Oct 25, 2009 to
    Genetics Articles

  • What Causes Proteus Syndrome?

    Proteus syndrome is a rare congenital disorder. So rare that there have been approximately 200 recorded cases. The disorder causes abnormal growth of skin, bones, head, and organs. Joseph Merrick, "The Elephant Man" had Proteus syndrome and the condition affects more boys than girls.
    Published by Paul Arnold (15377 pts) on Oct 25, 2009 to
    Genetics Articles

  • The Genetics of Gardner Syndrome

    Gardner syndrome is a rare autosomal dominant genetic disorder characterised by skin and soft tissue tumours, and by multiple polyps on the colon and upper intestine.
    Published by Paul Arnold (15377 pts) on Oct 23, 2009 to
    Genetics Articles

  • Understanding the Genetics of DiGeorge Syndrome

    DiGeorge syndrome is a rare and complex genetic disorder. It's caused by a loss or deletion of genes from chromosome 22 during early foetal development.
    Published by Paul Arnold (15377 pts) on Oct 23, 2009 to
    Genetics Articles

  • What Is Skeletal Dysplasia?

    What is skeletal dysplasia - or more accurately, what are the skeletal dysplasias? There are many conditions constituting this heterogeneous group - but what are the causes and qualities which unite them? This article aims to look at the current state of knowledge regarding diagnosis and etiology.
    Published by Ollie Hicks (1358 pts) on Oct 21, 2009 to
    Genetics Articles

  • What is Prune Belly Syndrome?

    Prune belly syndrome: what is it, what are the causes and what are the treatments? The name is intriguing - but what are the realities of living with the condition? In this article we take a look at what is currently known about Prune belly syndrome.
    Published by Ollie Hicks (1358 pts) on Oct 21, 2009 to
    Genetics Articles

  • Facts about Pfeiffer Syndrome

    Pfeiffer syndrome is a genetic disorder that affects 1 in 100,000 births and is characterised by the premature fusion of skull bones.
    Published by Paul Arnold (15377 pts) on Oct 19, 2009 to
    Genetics Articles

  • What is Von Hippel-Lindau Syndrome?

    Von Hippel-Lindau syndrome, known as VHL, is an inherited autosomal dominant disease that causes tumors throughout various regions of the body. The symptoms and the characteristics of VHL are actually quite different from patient to patient, making the diagnosis of this disease often problematic.
    Published by dgemmellaro (1525 pts) on Oct 13, 2009 to
    Genetics Articles
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