What does the TNXB gene do?
The TNXB gene provides instructions for making a protein called tenascin-X. This protein plays an important role in organizing and maintaining the structure of tissues that support the body’s muscles, joints, organs, and skin (connective tissues).
Where is TNXB gene located?
The TNXB gene (sometimes known by other names such as HXBL, TNX, TENX, XB) belongs to a family of genes called fibronectin type III domain containing and localizes to the major histocompatibility complex (MHC) class III region on chromosome 6, at cytogenetic location 6p21. 3.
Can EDS be misdiagnosed?
Ehlers-Danlos Syndrome: Not Rare, Just Rarely Diagnosed Misdiagnosis and a lack of EDS awareness among medical professionals often results in patients experiencing years of suffering without proper diagnosis and treatment.
What is Arthrochalasia?
Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis ).
How common is hypermobile EDS?
The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people.
Who is most likely to get Ehlers-Danlos syndrome?
Most are rare e.g., 1 in 40,000 – 200,000 and some are ultrarare i.e., less than 1 in a million people. Individuals of all racial and ethnic backgrounds are affected by EDS which can present with complications from birth and progress over time.
Does EDS affect teeth?
Ehlers-Danlos syndrome (EDS) can adversely impact upon the function of the mouth and in turn potentially lessen quality of life. While many people with EDS not have any notable oral problems specifically due to EDS, this connective tissue disorder can affect the teeth and gums as well as the temporomandibular joint.
How rare is hypermobile EDS?
The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people.