Cleidocranial Dysostosis is a rare medical condition that affects the development of bones especially in the skull and collarbone. The word "cleido" comes from the Greek word "kleidos" which means collarbone. "Cranial" refers to the skull and "dysostosis" means abnormal bone growth. The phonetic transcription for this complex term is /ˌklʌi.doʊ.krəˈneɪl ˌdaɪs.ɒˈstoʊsɪs/. The difficult spelling can be attributed to the combination of Greek and Latin terms that make up the word.
Cleidocranial dysostosis, also known as cleidocranial dysplasia or CCD, is a rare genetic disorder that affects the development and growth of bones, particularly the collarbones and skull. It is characterized by abnormal clavicles, dental abnormalities, and cranial deformities.
Individuals with cleidocranial dysostosis often have underdeveloped or absent collarbones, which can result in increased mobility and flexibility of the shoulders. This lack of bone structure can cause the shoulders to meet in the middle of the chest, a condition known as "crossed" or "angled" shoulders. This skeletal abnormality can lead to a decreased range of motion and may impact physical activities.
Furthermore, individuals with this condition may exhibit dental abnormalities, such as delayed eruption of permanent teeth, malalignment, and extra teeth. The cranial deformities associated with cleidocranial dysostosis include a delayed closure of the fontanelles (soft spots), resulting in an unusually large, bulging head shape.
Cleidocranial dysostosis is caused by mutations in the RUNX2 gene, which plays a vital role in bone development. Inheritance is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the disorder to their children.
Management of cleidocranial dysostosis involves a multidisciplinary approach, including dental and orthopedic interventions. Treatment may include dental extractions, orthodontic procedures, and in some cases, surgical intervention to address skeletal abnormalities. Overall prognosis for individuals with cleidocranial dysostosis is generally good, although the severity of the condition can vary among affected individuals.
The term "Cleidocranial Dysostosis" derives from the combination of three Greek words: "cleido" meaning "clavicle" or "collarbone", "cranio" meaning "skull", and "dysostosis" meaning "abnormal bone formation".
"Cleido" comes from the Greek word "kleis" which means "key", and in this context, it refers to the collarbone's shape resembling a key. "Cranio" is derived from the Greek word "kranion" meaning "skull". Lastly, "dysostosis" combines "dys", meaning "abnormal" or "difficult", and "ostosis", meaning "bone formation" or "growth".
Therefore, "Cleidocranial Dysostosis" literally translates as "abnormal bone formation of the collarbones and skull".