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Treatment of Langer- Giedion Syndrome:

  • Langer-Giedion Syndrome cannot be fully treated but health care professionals such as pediatricians, orthopedists, and speech pathologists can help the patient learn how to live with this disorder more comfortably.
  • Patients can also surgically remove exotoses.
  • Physical therapy can help improve joint movement.

Status of Research:

  • Genetic and Rare Diseases (GARD) Information Center
  • Little People of America, Inc.
  • March of Dimes Birth Defects Foundation
  • NIH/ National Institute of Arthritis and Musculoskeletal and Skin Diseases
  • Trichorhinophalangeal Syndrome Association

What is Langer-

Giedion Syndrome?

  • Langer-Giedion Syndrome is also known as Trichorhinophalangeal Syndrome- Type II

How is Langer-Giedion Syndrome inherited?

Symptoms:

  • Langer-Giedion Syndrome is not usually inherited hereditarily, but rarely it is.
  • Langer-Giedion Syndrome usually happens as a random occurrence during the formation of eggs or sperm in the parent of the affected patient.
  • bone abnormalties
  • benign (noncancerous) bone tumors (exotoses)
  • pressure on nerves, blood vessels, spinal cord, and tissues surrounding the exotoses
  • short stature
  • cone shaped ends of long bones (epiphyses)
  • thin, sparse hair
  • rounded nose
  • thin upper lip
  • long flat area between nose and upper lip
  • loose skin (usually in childhood)
  • mental retardation
  • delayed puberty
  • limited or hyper-flexible joint movement
  • airway difficulties

Genetic Status of Langer-Giedion Syndrome:

  • located on chromosome 8.
  • dominant trait.
  • no gender or race is more likely to be diagnosed with this disorder
  • no environmental factors affect the chances of being diagnosed with this disorder

https://classroomconnection.s3.amazonaws.com/723/flashcards/1176723/jpg/osteochondroma1328882241375

https://upload.wikimedia.org/wikipedia/commons/1/14/Langer-Giedion_syndrome.JPG

Karyotype for Langer-Giedion Syndrome

Langer-Giedion Syndrome

by: Katherine Ewing

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