Cleidocranial Dysostoses is a rare genetic disorder that affects the development of bones and teeth. The word is spelled using the International Phonetic Alphabet (IPA) as [kliːdoʊkreɪniəl daɪsɒstoʊziːz]. The initial "k" sound is followed by a long "ī" sound, and then "doh-krey-nee-uhl." The second part of the word, "dysostoses," is pronounced "dī-sŏs-tō-sēz." People with this condition often have delayed closure of the skull bones and other skeletal abnormalities, which may require treatment by a team of healthcare professionals.
Cleidocranial Dysostosis, also known as Cleidocranial Dysplasia or CCD, is a rare congenital disorder characterized by abnormalities in bone development and growth. Specifically, it affects the formation of certain bones in the skeleton, including the collarbones (clavicles) and the bones of the skull.
Individuals with Cleidocranial Dysostosis often have absent or underdeveloped clavicles, which can lead to the appearance of sloping shoulders and difficulty raising the arms above the head. Additionally, the condition impacts the development of the skull bones, leading to a delayed closure of the fontanelles (soft spots) and sutures, causing a characteristic "open" or "depressed" appearance of the top of the head.
Other features commonly associated with Cleidocranial Dysostosis include dental abnormalities, such as delayed eruption of permanent teeth, supernumerary (extra) teeth, and a high, arched palate. Furthermore, individuals with CCD may have distinctive facial features, including a broad forehead, wide set eyes, and a protruding jaw.
Cleidocranial Dysostosis is typically caused by mutations in the RUNX2 gene, which plays an essential role in bone development. This genetic condition is usually inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their offspring.
Management of Cleidocranial Dysostosis involves a multidisciplinary approach, which may include orthopedic interventions to improve skeletal abnormalities, dental treatments to address dental issues, and social support to manage any psychological or social challenges associated with the condition.
The word "Cleidocranial Dysostoses" is derived from Greek and Latin roots. Here is the breakdown of its etymology:
1. "Cleido-" originates from the Greek word "klēís" (κλεῖς), meaning "key" or "clavicle". It refers to the clavicle bone, which is also known as the collarbone.
2. "Cranial" comes from the Latin word "cranium", meaning "skull". It specifically relates to the bones of the skull.
3. "Dysostoses" is derived from the Greek word "dus-" (δυσ-), meaning "difficult" or "faulty", and "-ostosis" (-ὀστῶσις), meaning "condition of ossification" or "abnormal bone growth".