Langer–Giedion syndrome
Langer–Giedion Syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple bone abnormalities. It is also known as Trichorhinophalangeal Syndrome type II (TRPS II).
Overview[edit | edit source]
Langer–Giedion Syndrome is an autosomal dominant disorder, which means that only one copy of the altered gene is necessary for the disorder to occur. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Symptoms[edit | edit source]
The symptoms of Langer–Giedion Syndrome can vary greatly from person to person. However, common symptoms include distinctive facial features such as a bulbous nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Individuals with this syndrome may also have intellectual disability and multiple bone abnormalities, including cone-shaped epiphyses, the rounded ends of long bones.
Genetics[edit | edit source]
Langer–Giedion Syndrome is caused by mutations in the TRPS1 and EXT1 genes. These genes provide instructions for producing proteins that are involved in the development of bones and other tissues.
Diagnosis[edit | edit source]
Diagnosis of Langer–Giedion Syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Langer–Giedion Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgery to correct bone abnormalities.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Langer–Giedion syndrome is a rare disease.
Langer–Giedion syndrome Resources | |
---|---|
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD