Genetic Disorders: Osteogenesis Imperfecta & EDS
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Questions and Answers

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

  • Autosomal recessive
  • Autosomal dominant (correct)
  • X-linked recessive
  • X-linked dominant

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

    False (B)

    What is the primary treatment for Osteogenesis Imperfecta?

    Bisphosphonates

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

    <p>kinky</p> Signup and view all the answers

    Which protein is defective in Menkes Disease?

    <p>ATP7A (D)</p> Signup and view all the answers

    Blue sclerae are a manifestation of Menkes Disease.

    <p>False (B)</p> Signup and view all the answers

    List one common symptom of Ehlers-Danlos Syndrome.

    <p>Hypermobile joints</p> Signup and view all the answers

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

    <p>tooth</p> Signup and view all the answers

    Match the following conditions with their key manifestations:

    <p>Osteogenesis Imperfecta = Multiple fractures and blue sclerae Ehlers-Danlos Syndrome = Hyperextensible skin and joint hypermobility Menkes Disease = Brittle, kinky hair and growth delay</p> Signup and view all the answers

    What major health risks are associated with Menkes Disease?

    <p>Increased risk of cerebral aneurysms (A)</p> Signup and view all the answers

    Flashcards

    Osteogenesis Imperfecta

    A genetic condition characterized by fragile bones, often referred to as 'brittle bone disease.' It results from defects in collagen synthesis, primarily affecting the genes COL1A1 and COL1A2.

    Ehlers-Danlos Syndrome

    A group of genetic disorders affecting collagen production, leading to hyperextensible skin, hypermobile joints, and increased susceptibility to bruising and bleeding.

    Menkes Disease

    An X-linked recessive disorder caused by a deficiency in copper absorption and transport, resulting in defective collagen cross-linking.

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

    The most common form of Osteogenesis Imperfecta, usually inherited in an autosomal dominant pattern.

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    What is the structural issue with collagen in the most common form of Osteogenesis Imperfecta?

    The collagen produced in this form of Osteogenesis Imperfecta is structurally normal but has issues with triple helix formation.

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    What is the distinctive eye symptom seen in Osteogenesis Imperfecta?

    A characteristic symptom of Osteogenesis Imperfecta, caused by the thinness and translucency of scleral collagen, revealing the choroidal veins.

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    What is the tooth abnormality associated with Osteogenesis Imperfecta?

    This symptom of Osteogenesis Imperfecta is due to defective dentin formation, leading to opalescent, easily worn-down teeth.

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    What is the most common type of Ehlers-Danlos Syndrome?

    A common manifestation of Ehlers-Danlos Syndrome involving excessive joint flexibility and instability.

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    What enzyme is affected in Menkes Disease?

    A copper-dependent enzyme crucial for collagen cross-linking, whose activity is heightened in Menkes Disease due to copper deficiency.

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    What is the common treatment for Osteogenesis Imperfecta?

    This treatment is used to manage fractures in Osteogenesis Imperfecta.

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    Study Notes

    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

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    Description

    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.

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