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Updated: May 10 2023

Inheritance Patterns of Orthopaedic Syndromes

  • Different inheritance patterns
    • Allows for specific patterns of inheritance controlled by a single gene pair (“monogenic”)
      • 4 different types of patterns
        • autosomal dominant
        • autosomal recessive
        • x-linked dominant
        • x-linked recessive
      • additional inheritance effects include
        • imprinting
        • anticipation
    • In general
      • defective structural proteins = AD
      • defective enzymes = AR
  • Pedigree Analysis
    • A pedigree chart displays a family tree and the members of the family affected by a genetic trait
    • Use
      • a pedigree chart can be used to determine the mode of transmission
      • dominance
        • whether the trait is dominant or recessive
      • linkage
        • whether the trait is X-linked or autosomal
    • Key
      • shapes
        • circles represent females
        • squares represent males
      • color
        • a black circle/square represents an individual affected by the genetic trait
        • a white circle/square represents an individual that is not affected by the trait
      • lines
        • horizontal
          • a male and female connected by a horizontal line have mated and have children
        • vertical
          • vertical lines connect parents to their children
  • Autosomal Dominant
    • Description
      • only need to get the abnormal gene from one parent in order for you to inherit the disease.
    • Examples
      • Syndactyly
      • Polydactyly
      • Marfan's syndrome
      • Cleidocranial Dysostosis
      • Hereditary Multiple Exostosis
      • Achondroplasia
      • MED
      • Metaphyseal chondrodysplasia (Schmid and Jansen types)
      • Kniest dysplasia
      • Malignant hyperthermia
      • Ehlers-Danlos syndrome
      • Osteogenesis imperfecta (types I-IV)
      • Osteochondromatosis/Multiple Hereditary Exostosis
      • Osteopetrosis (tarda, mild form)
  • Autosomal Recessive
    • Description
      • an autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
    • Examples
      • Diastrophic Dysplasia
      • Friedreich's Ataxia
      • Gaucher disease
      • Spinal muscular atrophy
      • Sickle cell anemia
      • Hypophosphatasia
      • Osteopetrosis (infantile, malignant form)
  • Sex-linked Recessive (males only)
    • Description
      • X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.
    • Examples
      • Duchenne muscular dystrophy
      • Becker's muscular dystrophy
      • Hunter's syndrome
      • SED tarda
  • Sex-linked Dominant
    • Examples
      • Hypophosphatemic rickets
      • Leri-Weill dyschondrosteosis (bilateral Madelung's deformity)
  • Multiple inheritance patterns
    • Examples
      • Charcot-Marie-Tooth (AD, AR, Xlink)
      • Osteopetrosis (AD, AR)
      • Osteogenesis Imperfecta (AR, AD)
      • Neurofibromatosis (AD, AR)
      • SED (AD, Xlink)
  • Miscellaneous Genetic Inheritance
    • Imprinting
      • a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner
      • Examples
        • Angelman Syndrome
        • Prader-Willi Syndrome
    • Anticipation
      • a phenotype occurs earlier (and typically worse) in each subsequent generation
      • common in trinucleotide repeat disorders
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