Inheritable Disorders of Connective Tissue (3)

Question 1

Marfan syndrome:
What is this?

What are some of the clinical features?

What is this associated with?

Answer 1

➊ Autosomal dominant connective tissue disorder affecting the production of Fibrillin

➋ • Tall stature
• Long neck, limbs, and fingers
• High arch palate
• Hypermobility
• Pectus carinatum/excavatum

➌ Scoliosis, PTX, GORD, Mitral/Aortic regurgitation, Aortic aneurysm

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

Question 2

Ehlers-Danlos Syndrome:
What is this?

What is the most common type? What are the key features of it?

What is the most dangerous type?

Answer 2

➊ Umbrella term for genetic conditions that cause defects in Collagen, resulting in joint hypermobility and connective tissue disorders

➋ Hypermobile EDS – Key features of Joint hypermobility and Soft, stretchy skin

➌ Vascular EDS

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