Arthrochalasia Ehlers-Danlos syndrome

Arthrochalasia Ehlers-Danlos syndrome (aEDS), formerly known as Ehlers-Danlos syndrome type VIIA and VIIB, is an extremely rare heritable connective tissue disorder characterized by severe generalized joint hypermobility with recurrent joint dislocations, particularly bilateral congenital hip dislocation. It is caused by heterozygous pathogenic variants in the COL1A1 or COL1A2 genes, which encode the pro-alpha chains of type I collagen. These mutations specifically affect the cleavage site for the N-propeptide of type I procollagen, leading to structurally abnormal collagen fibrils. The condition primarily affects the musculoskeletal system, skin, and other connective tissues throughout the body. Key clinical features include congenital bilateral hip dislocation (present at birth in most cases), severe joint hypermobility with frequent subluxations and dislocations, skin hyperextensibility, tissue fragility with atrophic scarring, muscle hypotonia, kyphoscoliosis, and mild osteopenia. Some patients may also exhibit easy bruising. The skin tends to be soft, doughy, and fragile, though typically less so than in the classical type of EDS. There is currently no cure for arthrochalasia EDS, and management is supportive and symptomatic. Treatment focuses on physical therapy to strengthen muscles and stabilize joints, orthopedic interventions for joint dislocations and skeletal complications, and careful surgical management when needed (with awareness of tissue fragility). Pain management and occupational therapy are also important components of care. Genetic counseling is recommended for affected individuals and their families. Fewer than 30 cases have been reported in the medical literature, making this one of the rarest subtypes of Ehlers-Danlos syndrome.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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