Genetic Disorders: Osteogenesis Imperfecta & Ehlers-Danlos

What is the primary genetic cause of Osteogenesis Imperfecta?

Which of the following is NOT a common manifestation of Osteogenesis Imperfecta?

Which type of Ehlers-Danlos Syndrome is characterized by joint instability?

What results from impaired copper absorption in Menkes Disease?

What is a hallmark symptom of the classical type of Ehlers-Danlos Syndrome?

What is one of the cautionary notes associated with treatment for Osteogenesis Imperfecta?

Which condition is associated with a risk of berry and aortic aneurysms?

Which mutation is primarily responsible for the vascular type of Ehlers-Danlos Syndrome?

Osteogenesis Imperfecta

Genetic bone disorder caused by gene defects (most commonly COL1A1 and COL1A2)
Autosomal dominant type I collagen is common, but with altered triple helix formation
Manifestations:
- Multiple fractures and bone deformities (especially after minor trauma, e.g., during birth)
- Blue sclera due to translucent scleral collagen revealing choroidal veins
- Tooth abnormalities (e.g., opalescent teeth that wear easily, dentinogenesis imperfecta)
- Hearing loss due to abnormal ossicles

Ehlers-Danlos Syndrome

Faulty collagen synthesis leads to:
- Hyperextensible, thin, or translucent skin.
- Hypermobile joints
- Tendency to bleed easily (bruising)
Multiple types, with variable inheritance (autosomal dominant or recessive)
Potential associations:
- Joint dislocation
- Berry and aortic aneurysms
- Organ rupture
Different types include hypermobility type (most common), which involves joint instability

Menkes Disease

X-linked recessive connective tissue disorder
Caused by impaired copper absorption and transport, specifically due to a defective Menkes protein (ATP7A)
Copper deficiency leads to:
- Increased lysyl oxidase activity
- Defective collagen cross-linking
Manifestations:
- Brittle, "kinky" hair
- Growth and developmental delay
- Hypotonia
- Increased risk of cerebral aneurysms

Explore the genetic disorders Osteogenesis Imperfecta and Ehlers-Danlos Syndrome. This quiz covers their causes, manifestations, and implications on health. Understand the genetic aspects and clinical features of these conditions.