The Revision Guide for Student Nurses (Part I)

Congenital & Hereditary Defects - Answers

ANSWERS

  1. What is the difference between a congenital and a hereditary defect?
    A congenital defect is a defect present at birth that may be either inherited or arise as a result of environmental factors. A hereditary defect is always inherited from the genes acquired from the parent generation, and may be present at birth or develop later on in life.
  2. What is meant by a phenocopy?
    A congenital abnormality not caused by a genetic defect, but looking exactly like an inherited abnormality.
  3. List 2 examples of congenital defect that may affect any breed of dog or cat.
    • Cleft palate.
    • Umbilical hernia.
  4. What is hip dysplasia?
    A hereditary disease characterised by loose fitting hip joints. Hip dysplasia is said to be multifactorial, since environmental components may also affect the development of the disease. Large dog breeds are most commonly affected.
  5. List 4 dog breeds commonly affected by hip dysplasia?
    • German Shepherd.
    • Golden Retriever.
    • Labrador Retriever.
    • Rottweiler.
  6. What are the names of the 2 organisations which run a scheme for testing prospective sires and dams for hip dysplasia?
    • The British Veterinary Association (BVA).
    • The Kennel Club.
  7. What is the minimum age for a dog to be tested under the BVA/Kennel Club Hip Dysplasia Scheme?
    Twelve months.
  8. List 4 examples of hereditary eye defects.
    • Hereditary cataracts.
    • Persistent hyperplastic primary vitreous.
    • Progressive retinal atrophy (central or generalised).
    • Primary lens luxation.
  9. What organisations run a scheme to monitor inherited ocular disease?
    • The British Veterinary Association (BVA).
    • The Kennel Club.
    • The International Sheepdog Society.
  10. What is the difference between ectropion and entropion?
    • Ectropion = Outward turning of the eyelid.
    • Entropion = Inward turning of the eyelid.
  11. Name 2 dog breeds commonly affected by entropion.
    • Cocker Spaniel.
    • Shar Pei.
  12. What is the difference between cryptorcidism and monorchidism?
    • Cryptorchidism = testicle/s retained within the abdomen (ie. undescended).
    • Monorchidism = an animal which only has ONE testicle.
  13. What breed of dog is prone to Wobbler syndrome?
    The Doberman.
  14. Name 2 breeds of dog that may be affected by progressive axonopathy?
    • Boxer.
    • German Shepherd.
  15. What inherited defect may affect red cocker spaniels?
    Rage syndrome.
  16. What colour is cause by an incomplete dominant gene and may be seen in conjunction with deafness?
    Merle.
  17. What common inherited abnormality affects white cats with blue eyes?
    Deafness.
  18. What breed of cat may be affected by congenital hypokalaemia?
    The Burmese.
  19. What breed of cat may be affected by flat-chested kitten syndrome?
    The Burmese.
  20. What inherited defect of the cat may show the following characteristics if the offspring is homozygous: a thickened tail, swollen feet & disinclination to move?
    Folded-ears.