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.
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://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/)