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Inheritable Disorders of Connective Tissue

Marfan syndrome

This is an autosomal dominant connective tissue disorder affecting the production of Fibrillin.


Clinical features:

  • Tall stature

  • Long neck, limbs, and fingers

  • High arch palate

  • Hypermobility

  • Pectus carinatum/excavatum


This syndrome is associated with Scoliosis, PTX, GORD, Mitral/Aortic regurgitation, Aortic aneurysm.


N.B. Very important risk factor for Thoracic AAs.

“Patient with Marfan Syndrome” © Mileny ES Colovati 1 , Luciana RJ da Silva 1 , Sylvia S Takeno 1 , Tatiane I Mancini 1 , Ana R N Dutra 1 , Roberta S Guilherme 1 , Cláudia B de Mello 2 , Maria I Melaragno 1 and Ana B A Perez CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/)

Ehlers-Danlos Syndrome

This is an umbrella term for genetic conditions that cause defects in Collagen, resulting in joint hypermobility and connective tissue disorders.


It's types include:

  • Hypermobile EDS (most common) – Key features of Joint hypermobility and Soft, stretchy skin

  • Vascular EDS - most dangerous type


N.B. Very important risk factor for Thoracic AAs.


Important Links:

https://www.nhs.uk/conditions/marfan-syndrome/

https://bestpractice.bmj.com/topics/en-gb/514

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

https://cks.nice.org.uk/topics/developmental-rheumatology-in-children/management/hypermobility-in-children/

https://bestpractice.bmj.com/topics/en-gb/570

“Thumb sign in 16 year old male with Ehlers-Danlos syndrome” © Piotr Dołżonek CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0/)

“Ehlers-Danlos syndrome patient, 16-year-old Caucasian male” © Piotr Dołżonek CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0/)

“An 18 years old patient with Ehlers-Danlos syndrome puts his fingers on top of each other” © SamuelEDS94 CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/)

“Hyperelastic skin in a person with Ehlers-Danlos syndrome” © Whitaker JK, Alexander P, Chau DY, Tint NL CC BY 2.5 (https://creativecommons.org/licenses/by/2.5/)



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