Genetic Disorders: Osteogenesis Imperfecta & EDS

What is the most common form of Osteogenesis Imperfecta's inheritance pattern?

Ehlers-Danlos Syndrome only occurs in individuals with an autosomal dominant inheritance pattern.

What is the primary treatment for Osteogenesis Imperfecta?

Menkes Disease leads to brittle, ______ hair due to defective copper transport.

Which protein is defective in Menkes Disease?

Blue sclerae are a manifestation of Menkes Disease.

List one common symptom of Ehlers-Danlos Syndrome.

Individuals with Osteogenesis Imperfecta can exhibit ______ abnormalities due to lack of dentin.

Match the following conditions with their key manifestations:

What major health risks are associated with Menkes Disease?

Osteogenesis Imperfecta

Genetic bone disorder caused by various gene defects, most commonly COL1A1 and COL1A2
Most common form is autosomal dominant
Characterized by altered triple helix formation of type I collagen
Manifestations include multiple fractures and bone deformities (easily fractured after minimal trauma, often visible during birth)
Blue sclerae due to translucent scleral collagen, revealing choroidal veins
Some forms have tooth abnormalities, including opalescent teeth that wear easily due to lack of dentin (dentinogenesis imperfecta)
Hearing loss due to abnormal ossicles

Ehlers-Danlos Syndrome

Faulty collagen synthesis results in hyperextensible, thin, and often transparent skin
Joints are hypermobile, high tendency to bleed (easy bruising)
Multiple types, inheritance and severity vary
Can be autosomal dominant or recessive
May be associated with joint dislocations, berry and aortic aneurysms, organ rupture
Hypermobility type is the most common type

Menkes Disease

X-linked recessive connective tissue disorder caused by impaired copper absorption and transport due to defective Menkes protein ATP7A (Absent copper)
Leads to increased activity of lysyl oxidase (copper is a cofactor)
This results in defective collagen cross-linking
Characteristics include brittle, "kinky" hair, growth and developmental delay, hypotonia, and increased risk of cerebral aneurysms

This quiz covers two significant genetic disorders: Osteogenesis Imperfecta and Ehlers-Danlos Syndrome. Participants will explore the genetic causes, symptoms, and implications of these collagen-related conditions. Test your knowledge about their characteristics and inheritance patterns.