Common questions

How accurate is genetic testing for EDS?

How accurate is genetic testing for EDS?

If you have EDS Type I or Type II, genetic testing is usually available through a blood test. But, the genetic test only finds about 50% (1 out of every 2) of cases.

What gene is affected by Ehlers-Danlos syndrome?

Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type.

Is Ehlers-Danlos inherited from mother or father?

Although in the majority of cases EDS is inherited from the parents, in rare cases, it can occur without any family history and due to new mutations occurring during development. EDS may be inherited in one of two ways: autosomal dominant and autosomal recessive.

What is the life expectancy of someone with hypermobile Ehlers-Danlos syndrome?

Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.

What type of doctor can diagnose Ehlers-Danlos syndrome?

The only doctors whose business it is to diagnose EDS are geneticists (the specialists in inherited conditions).

Is EDS an autoimmune disease?

A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it’s an inherited disorder.

Can you live a long life with VEDS?

It is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”

What do you need to know about Craniofrontonasal dysplasia?

General Discussion. Craniofrontonasal dysplasia (CFND) is a very rare inherited disorder characterized by body – especially facial – asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities.

Are there any rare diseases related to Craniofrontonasal Syndrome?

Craniofrontonasal Dysplasia. National Organization for Rare Diseases (NORD). 2016; Elzen MEP van den, Twigg SRF, Goos JAC & cols. Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

What are the symptoms of frontonasal dysplasia in females?

Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism ( Twigg et al., 2004; Wieland et al., 2004 ). Cohen (1979) identified CFNS as a subgroup of frontonasal dysplasia.

Is there any evidence of tissue dysplasia in CFNS?

Since there is no evidence of tissue dysplasia in CFNS, Michels et al. (1989) suggested that the disorder be designated craniofrontonasal dysostosis. They reported an affected mother and daughter who also had limited hip and shoulder abduction.

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