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
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Karyotype for Langer-Giedion Syndrome
Langer-Giedion Syndrome