Although Loeys-Dietz syndrome shows overlap with other disorders such as Marfan Syndrome (MFS), Ehler-Danlos Syndrome (EDS), Shprintzen-Goldberg syndrome (SGS) and others, a variety of differential features set LDS apart from other disorders.
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Individuals diagnosed with Marfan syndrome (MFS) exhibit several findings not found in LDS patients. These include:
Individuals with LDS tend to have a more translucent quality to their skin, allowing veins to be easily visible. Abnormal scarring and easy bruising also may occur to a greater degree in individuals with LDS.
Birth defects such as clubfoot , other structural heart defects and cleft palate (opening and obvious gap in the roof of the mouth) are also more likely to be associated with LDS.
It has also been discovered that the genetic cause for these two disorders is distinct. MFS is caused by a mutation (gene change) in the fibrillin-1 gene, while LDS is caused by a mutation in either the TGFBR1 or TGFBR2 gene.
If you are looking for comprehensive information on Marfan syndrome and a variety of other connective tissue disorders, please contact the National Marfan Foundation for more information:
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
1-800-8-MARFAN ext 10 (1-800-862-7326)
516-883-8712
Fax: 516-883-8040
www.marfan.org
Email: staff@marfan.org
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LDS is similar to vascular type Ehlers-Danlos (EDS) in that skin-related findings such as easy bruising, soft/velvety skin texture, wide scarring and translucent skin are seen in both syndromes. Both LDS and vascular type EDS have a relatively high instance of arterial aneurysms and to a lesser degree, spontaneous organ rupture.
The disorders are different in that individuals with LDS have physical findings typically not present in individuals withpe vascular ty EDS, such as widely-spaced eyes and bifid uvula.
Vascular type EDS occurs when the amount of collagen an individual produces is not the appropriate quantity or quality. It is diagnosed by collagen analysis from a fibroblast sample obtained through a skin biopsy. Individuals exhibiting EDS-like symptoms, but who have had normal collagen studies should be evaluated for LDS.
If you are looking for comprehensive information on Ehlers-Danlos syndrome please contact the Ehlers-Danlos National Foundation for more information:
Ehlers-Danlos National Foundation
3200 Wilshire Blvd. Suite 1601, South Tower
Los Angeles, California 90010
213-368-3800
Fax: 213-427-0057
www.ednf.org
Email: staff@ednf.org
EDS Network C.A.R.E.S Inc.
PO BOX 66
Muskego WI, 53150
262-514-2851
www.ehlersdanlosnetwork.org
Email: info@ehlersdanlosnetwork.org
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Individuals with Shprintzen-Goldberg syndrome (SGS) may have similar craniofacial and musculosketal findings as those found in individuals with LDS, including craniosynostosis, pectus anomalies and scoliosis.
However, the vast majority of individuals with SGS do not show aneurysm formation of the aortic root or of other arteries. Another difference between these two disorders is that individuals with SGS are also more likely to show developmental delay. The genetic basis for SGS is currently unknown.
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