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Conditions Treated at the ACH Connective Tissue Clinic

The congenital connective tissue diseases treated by the specialists in the Arkansas Children's Hospital Connective Tissue Clinic include:

Marfan Syndrome

Marfan Syndrome is a disorder involving the body's connective tissue. A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body. 
» Visit the Marfan Syndrome website.

Loeys-Dietz Syndrome

Loeys-Dietz Syndrome is a disorder due to a defective cellular receptor, either transforming growth factor ß–receptor 1 or 2 (TGFBR 1 or 2). TGFBR 1 and 2 are cell receptors that receive important signals that direct cell growth, specialization, movement, and cell death. 
» Visit the Loeys-Dietz Syndrome Foundation website.

Williams Syndrome

Williams Syndrome is a multisystem disorder involving connective tissue and the central nervous system. The connective tissue that is affected in Williams syndrome is called elastin, a structural protein in the cardiovascular system and soft tissues (skin and joints). 
» Visit the Williams Syndrome Association website.

Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is a group of disorders involving an important connective tissue known as collagen. Defective genes can cause problems with the collagen that is formed by the body, which impacts the integrity of many organs and structures in the body. 
» Visit the Ehlers-Danlos National Foundation website.

Familial Thoracic Aortic Aneurysm and Dissection Syndrome

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) Syndrome is a recently described disorder involving the aorta, the large artery that carries blood from the heart. In FTAAD, defective genes can cause the aorta to be weakened. Weakening of the layers of the wall of the arteries leads to an increase in size. 
» Visit the Thoracic Aortic Disease (TAD) Coalition website.

Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome (ATS) is a rare connective tissue disorder that results from a defect in a glucose transporter in the cells. The defect in the glucose transporter 10 (GLUT10) results in a change in the transforming growth factor-ß (TGF- ß) pathway, which leads to abnormalities in the arterial wall. Disruption of the elastic fibers in the middle layer of the arterial wall results in tortuosity, elongation, stenosis and aneurysms in major arteries. 

Non-syndromic Supravalvar Aortic Stenosis/Elastin Arteriopathy syndrome

Non-syndromic Supravalvar Aortic Stenosis/Elastin Arteriopathy syndrome is a disorder involving the connective tissue called elastin. Elastin Arteriopathy syndrome occurs when there is an abnormality in the elastin gene, which is on one of the chromosomes (chromosome 7). The abnormality in elastin results in the manifestations of Elastin Arteriopathy syndrome. Elastin is a structural protein in the cardiovascular system and soft tissues (skin and joints).