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Ehlers-Danlos Syndrome (EDS)

Causes & Risk Factors

As already stated EDS is a group of rare inherited connective tissue disorders. It may be noted that parents have no control over genes that pass on to their progeny (their children) or the genes they receive from their parents. An inherited disorder passes from one generation to the next within families and the mutation (or change) in about one of the 50,000 genes that are found on a chromosome (chromosomes are thread like structures in the center of each cell).

Genes direct the development and function of every cell in a living being. Genes and chromosomes exist in pairs. One half of each gene pair is passed on to the child from each parent and the new gene pairs determine the features or traits that the child inherits. Generally, inherited genes are normal and only in rare cases the mutations occur (reasons for mutations are unknown). Most mutations are not harmful but the occasional mutant genes cause a disorder, malfunction or malformation leading to different forms of EDS (5).

Types of EDS

There are many types of EDS, but are categorized into nine different types:

1. Classical Types (Types I & II): These types are remarkable due to the hypermobility of certain joints, skin hyperextensibility (laxity) and fragility. In people suffering from classical types of EDS, the smooth and velvety skin is fragile and tears or bruises easily with minor trauma. Joint instability with sprains and strains are common.

2. Hypermobility Type (Type III): In this type, any joint can be affected and dislocations are frequent. Hypermobility is an excess amount of elasticity in joints, or the ability for joints to stretch much farther than normal.

3. Vascular Type (Type IV): In this type, veins are visible through the skin. People suffering from this type have spontaneous rupture of arteries and bowel sometimes leading to death.

4. Kyphoscoliosis Type (Type VI): In this most uncommon type, the patient suffers from severe curvature of the spine (also known as kyphoscoliosis) with increased risk of rupture of medium sized arteries, muscular weakness and the fragile eyes that may be damaged or ruptured easily.

5. Arthrochalsia Type (Type VIIB): Patients suffering from this type of EDS have extreme general hypermobility of the joints and frequent joint dislocations. Patients are often short in height and the skin is hyperextensible (capable of being stretched or extended). There could also be easy scarring due to tissue fragility and kyphoscoliosis (spinal deformity combining sideways curvature and hunching forward of the upper part of the spine).(7)

6. Dermatosparaxis Type (Type VIIC): This is a rare type too with patients exhibiting extremely fragile and sagging skin, loose joints, swollen eyelids, umbilical hernia and bluish tinge to the whites of the eyes.

7. Periodontosis Type (Type VIII): This is a rare inherited type of EDS with differing degrees of hypermobility, inflammation of gums and the bones adjacent to the teeth (periodontitis).

8. Cutis Laxa (Type IX): This is a rare type of EDS with occurrence of chronic diarrhea and hypotension (low blood pressure). The skin and joints are rarely affected and scars are usually evident because healing is poor.

There are other variant and rare types of EDS that have been reported indicating that EDS is genetically diverse and heterogeneous disorder (2), (3) & (4).

Article by Kona Vishnu, MS
Medical Writer,
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