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Ehlers-Danlos Syndrome

Congenital Malformations and Chromosomal Abnormalities

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by mutations affecting the structure or processing of collagen, producing joint hypermobility, unusually stretchy and fragile skin, and easy bruising. At least thirteen subtypes are now recognized, ranging from the common hypermobile and classical forms to the rarer and more dangerous vascular type, which carries a risk of spontaneous rupture of arteries or internal organs. The condition is named for Danish dermatologist Edvard Ehlers, who described a case of unusual joint and skin laxity in 1901, and French dermatologist Henri-Alexandre Danlos, who linked the skin fragility to a connective tissue defect in 1908.

Facts
Classification
Body System
Integumentary System 1
Body System
Skeletal System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
400 BCE 4
Connections

Treated By

Physical therapy is standard supportive treatment to strengthen joints in Ehlers-Danlos syndrome.

Sources
1. Wikipedia: Ehlers-Danlos syndrome
Wikipedia
  • Ehlers-Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders.
  • Lead section, body-system statement
    Symptoms often include loose joints; joint pain; stretchy, velvety skin; and abnormal scar formation.
  • Lead section, body-system statement (skeletal)
    Symptoms often include loose joints; joint pain; stretchy, velvety skin; and abnormal scar formation.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
Wikipedia
  • Lead section, transmission-route statement (inferred from disease-category)
    Down syndrome and Cystic fibrosis.
  • Inherited/genetic diseases section
    Down syndrome and Cystic fibrosis.
View the Source
4. Ehlers-Danlos syndrome (Wikipedia)
Excess mobility first described by Hippocrates in 400 BC, article introView the Source
Wikidata: Ehlers-Danlos Syndrome
Wikidata Q1141499, class allow-list match (w-wdresolver-0926)View the Source
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