Berlin breakage syndrome
Berlin Breakage Syndrome is a rare genetic disorder characterized by short stature, an unusually small head size (microcephaly), intellectual disability, and various abnormalities of the skin and skeletal system.
Symptoms[edit | edit source]
The symptoms of Berlin Breakage Syndrome can vary greatly from person to person. However, common symptoms include microcephaly, short stature, intellectual disability, and various skin abnormalities and skeletal abnormalities. Some individuals may also have immune system problems, leading to frequent infections.
Causes[edit | edit source]
Berlin Breakage Syndrome is caused by mutations in the NBN gene, which provides instructions for making a protein that is involved in repairing damaged DNA. The NBN gene mutation leads to the production of an abnormally short, nonfunctional version of the NBN protein, preventing cells from repairing damaged DNA effectively. This can lead to cell death, which can contribute to the various signs and symptoms of Berlin Breakage Syndrome.
Diagnosis[edit | edit source]
Diagnosis of Berlin Breakage Syndrome is based on the presence of characteristic signs and symptoms, including microcephaly, short stature, intellectual disability, and skin and skeletal abnormalities. Genetic testing can confirm a diagnosis by identifying a mutation in the NBN gene.
Treatment[edit | edit source]
There is currently no cure for Berlin Breakage Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for any immune system problems.
Prognosis[edit | edit source]
The prognosis for individuals with Berlin Breakage Syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications from the disorder.
See also[edit | edit source]
- NBN gene
- Microcephaly
- Short stature
- Intellectual disability
- Skin abnormalities
- Skeletal abnormalities
NIH genetic and rare disease info[edit source]
Berlin breakage syndrome is a rare disease.
| Berlin breakage 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
