Ehlers-Danlos syndrome arthrochalasia type

Ehlers-Danlos syndrome, type 7A, Ehlers-Danlos syndrome, type 7B, Ehlers-Danlos syndrome procollagen proteinase deficient, Ehlers-Danlos syndrome autosomal recessive cardiac valvular form

Overview

Type of disease: Rare conditions

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome arthrochalasia Type (EDS VII A&B) is a rare form of EDS, with only about 30 cases reported. All people confirmed to have arthrochalasia type EDS have very loose (hypermobile) joints and are born with dislocations in both hips. Individuals with arthrochalasia type EDS tend to experience frequent joint dislocations and subluxations throughout life. Other symptoms may include abnormally stretchy (hyperextensible) skin, easy bruising, fragile skin, abnormal wound healing resulting in “cigarette paper” (atrophic) scars, low muscle tone (hypotonia), lower than normal bone mineral density (radiologically mild osteopenia), and kyphoscoliosis- a condition describing an abnormal curvature of the spine. Physical disability is common.

There is no cure for arthrochalasia type EDS; it is a life-long condition that requires close monitoring. Management includes physical therapy and the use of orthopedic braces. Early diagnosis at or around birth is important and can be life-saving.

Arthrochalasia type EDS is usually passed through families in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene in order to develop the disorder. It is caused by mutations in the COL1A1 and COL1A2 genes (resulting in EDS type VIIA & type VIIB, respectively), which affects how collagen is made in the body. If you or your child has been diagnosed with arthrochalasia type EDS, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.

Connect. Empower. Inspire.