Glossary of Commonly Used Terms

acrocyanosis- Turning blue due to poor circulation

aorta- The main artery of the body that originates from the left ventricle and down through the abdomen

aortic dilation – Expansion of the aorta that may result in aortic aneurysm

aneurysm- A bulged, weak spot in the artery supplying the brain with blood

autosomal dominant- The gene for the disease only needs to be passed on by one parent for illness to occur.

autosomal recessive-The gene for the disease needs to be passed on by both parents for illness to occur.

Beighton score- Scale used to test for hEDS. Anything above a five out of nine on the scale is usually considered a positive result.

bursae- small fluid filled snacks found in the joints

bursitis- Inflammation of the bursae

cardiovascular- Having to do with the heart and blood vessels

collagen- a connective tissue that acts as the “glue” keeping our bodies together

comorbid- conditions that occur together

connective tissue- Just what it sounds like, connective tissue binds different parts of the body to each other.

degenerative joint disease (DJD)- breakdown of cartilage in your joints

de novo mutation -basically a brand new mutation

dental crowding- A lack of space for teeth to come in; usually fixed by orthodontia.

Ehler’s Danlos- a group of inheritable connective tissue disorders related to the formation of collagen.

Ehler’s Danlos III/ type 3- (see Hypermobile Ehler’s Danlos)

gastroparesis- paralysis of the stomach’s muscles

hematologic- having to do with blood

hernias- when an organ protrudes through the abdominal (or wherever it occurs) wall

hyperextensibility- When joints extend further than they should. Some people call this “double-jointed.”

Hypermobile Ehler’s Danlos (hEDS) – An inheritable connective tissue disorder caused by problems in the formation of collagen

hypocoagulability- blood that takes longer to clot

Iliotibial band- the ligament spanning from the outside of the thigh from the hip to the shin

Iliotibial band syndrome or “snapping hip syndrome”- Inflammation of the iliotibial band

invisible illness- An illness that is not obvious simply by observing the person inflicted.

joint laxity- loose joints usually caused by a connective tissue disorder

low-impact exercise- Activities that are less harsh or “jolts” your joints less. Swimming and pilates are low impact exercises.

malocclusion- (see dental crowding)

Mitral Valve Prolapse (MVP) – A condition in which the two valve flaps do not close adequately

mobility assistance devices- Devices such as canes, walkers, and wheelchairs that help people move around.

molluscoid pseudotumors- fleshy lesions associated with scars

neuropathic pain- pain caused by damaged nerve fibers

Osteoporosis- A condition in which bones become weaker and more brittle

periodontal disease- gum disease

Postural Orthostatic Tachycardia Syndrome (POTS)- a type of Dysautonomia (dysfunction of the autonomic nervous system)

prevalence- how often a condition occurs

prolapse- a “slipping” of an organ downward

Raynaud syndrome- A condition in which small blood vessels spasm during the cold and lead to cold or colorful extremities.

skeletomuscular- Having to do with your skeleton and muscles.

subluxations- a partial dislocation

Temporomandibular joint disorders (TMJ)- pain and movement
problems around the jaw

tendon- attaches bone to muscle

tendonitis- inflammation of a tendon

TNXB- One of the genes found to be related to EDS. Haploinsufficiency of tenascin-X (encoded by TNXB) is associated with EDS.

von Willebrand disease- A condition that causes excessive bleeding