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Heritable Disorders of Connective Tissue [HDCT]

Published: 20 November 2017
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A collection of over 200 disorders involving genetic mutations of the proteins that make up the bodies connective tissues. They are all known to be carried down from one generation to the next; some are known to be autosomal dominant (only one parent has to carry the gene) and others are autosomal recessive (both parents have to carry the gene). Some HDCTs can change the growth and appearance of certain physical features, sometimes in utero (making it difficult to decipher between what is and is not normal). Most Chiari Specialists now agree that most (some even say all) cases of Chiari Malformation involve some form of a Connective Tissue Disorder.

Some HDCTs Common to Chiarians, include:

Ehlers-Danlos Syndromes [EDS]

Published: 20 November 2017
Written by CBAdmin
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A collection of genetic disorders that involve mutations of the protein collagen. Connective tissues such as collagen, maintain the skin, bones, blood vessels, and many other organs and tissues. All types of Ehlers-Danlos Syndromes can affect the joints and skin. Each type comes with its own set of signs and symptoms, however it is common for symptoms to overlap from one type to another, making genetic testing important if more serious types are suspected. Currently, genetic testing is available for all types except Hypermobility Type (hEDS).

Some common attributes are: easy bruising, elastic and fragile skin, abnormal scarring and overly flexible joints.

There are now thirteen recognized sub-types of EDS:

  • Classical EDS (cEDS)
  • Classical-like EDS (clEDS)
  • Cardiac-valvular EDS (cvEDS)
  • Vascular EDS (vEDS)
  • Hypermobile EDS
  • Arthrochalasia EDS (aEDS)
  • Dermatosparaxis EDS (dEDS)
  • Kyphoscoliotic EDS (kEDS)
  • Brittle Cornea Syndrome (BCS)
  • Spondylodysplastic EDS (spEDS)
  • Musculocontractural EDS (mcEDS)
  • Myopathic EDS (mEDS)
  • Periodontal EDS (pEDS)

 

 

Loeys-Dietz Syndrome

Published: 3 July 2016
Written by CBAdmin
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A connective tissue disorder with four specific types; which are differentiated by their genetic causes.  Signs and symptoms have no specific onset age range and the severity also ranges by person. One key sign of the condition is an enlarged aorta but symptoms are not limited to the heart.  Signs and symptoms can also be found in the blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

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