"EHLERS DANLOS SYNDROME"

EHLERS DANLOS SYNDROME

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(EDS) is a group of inherited connective tissue disorders characterized by symptoms such as hyper-flexible joints, skin that is easily bruised, and a tendency to develop scars. 

• Ehlers-Danlos syndrome is a collection of heritable connective tissue disorders.

• It primarily affects the skin, joints, and blood vessels.

Types of EDS

• Hypermobile EDS (hEDS): Most common type, characterized by generalized joint hypermobility and chronic pain.

• Classical EDS (cEDS): Notable for skin fragility and atrophic scarring, caused by mutations in COL5A1 and COL5A2.

• Kyphoscoliotic EDS (kEDS): Early-onset kyphoscoliosis and hypotonia, associated with PLOD1 and FKBP14.

• Other rare types include Musculocontractural EDS, Spondylodysplastic EDS, and Brittle Cornea Syndrome, each with unique symptoms and genetic underpinnings.

Inheritance Patterns

• Autosomal Dominant: One copy of the mutated gene is sufficient to cause the disorder (e.g., hEDS, cEDS, vEDS).

• Autosomal Recessive: Two copies of the mutated gene are required (e.g., kEDS, dEDS).

Management and Treatment

There are no specific treatments for EDS; management focuses on symptom relief:

• Physical therapy to strengthen muscles and stabilize joints.

Prognosis and Future Considerations

• The prognosis varies significantly among individuals and types of EDS.

• Ongoing research aims to better understand the genetic causes and develop targeted therapies.