- Alport Syndrome
- Menkes Disease
- Osteogenesis Imperfecta (Brittle Bone Disease)
- Collagen Synthesis
- Ehlers-Danlos Syndrome
- Goodpasture Syndrome
Ehler-Danlos Syndrome (EDS) describes a group of inherited disorders caused by defects in collagen. While there are many causes, important causes include defects in tropocollagen cleavage or in cross-linking during collagen synthesis. There are 3 major types of EDS that are well-studied, and therefore high-yield for exams:
The Hypermobility type of Ehlers-Danlos presents with joint instability only.
The Classical type of Ehlers-Danlos presents with both joint hypermobility and skin hyperextensibility. The classical type results from defects in Type V collagen.
Lastly, the Vascular type of Ehlers-Danlos results from defects in Type III collagen, and can present with complications such as aortic dissection, berry aneurysms, and rupture of organs, especially uterine rupture in pregnancy.
All the above subtypes of EDS are associated with mitral valve prolapse.
Find this Ehlers-Danlos Syndrome mnemonic and more mnemonics for Collagen Related Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.