Cleidocranial dysostosis
Cleidocranial dysostosis (pronounced: kli-do-kra-ne-al dis-os-to-sis) is a rare genetic disorder characterized by abnormal development of the bones and teeth.
Etymology
The term "Cleidocranial dysostosis" is derived from the Greek words "kleis" meaning key, "kranion" meaning skull, and "dysostosis" meaning abnormal bone formation.
Symptoms
The most common symptoms of Cleidocranial dysostosis include:
- Delayed closure of the spaces between the bones of the skull (fontanels)
- Absence or underdevelopment of the clavicles (collar bones)
- Dental abnormalities such as delayed eruption of secondary teeth and presence of extra (supernumerary) teeth
- Short stature
- Broad thumbs and toes
Causes
Cleidocranial dysostosis is caused by mutations in the RUNX2 gene. This gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance.
Diagnosis
Diagnosis of Cleidocranial dysostosis is typically based on a clinical evaluation, detailed patient history, and specialized tests such as X-ray imaging. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Cleidocranial dysostosis is symptomatic and supportive. It may include surgical intervention for skeletal and dental abnormalities, and physical therapy to improve mobility and strength.
See also
References
External links
- Medical encyclopedia article on Cleidocranial dysostosis
- Wikipedia's article - Cleidocranial dysostosis
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski