Cleidocranial Dysplasia is a rare genetic disorder that affects bone development. The correct spelling of this word is tricky, but its International Phonetic Alphabet (IPA) transcription can help understand it. The first part, "cleido," is pronounced as /ˈklaɪ.doʊ/. The second part, "cranial," is pronounced as /ˈkreɪ.ni.əl/. Lastly, "dysplasia" is pronounced as /dɪsˈpleɪ.zi.ə/. Hence, put together, the complete pronunciation is /ˌklaɪ.doʊˈkreɪ.ni.əl dɪsˈpleɪ.zi.ə/. Understanding its phonetics can help master the spelling and pronunciation of this word.
Cleidocranial dysplasia (CCD) is a rare genetic disorder characterized by abnormal development of the bones and tissues in the skull and collarbones. This condition affects the development of bones and teeth, leading to various physical abnormalities and dental abnormalities, such as delayed loss of baby teeth and delayed eruption of permanent teeth.
The name "cleidocranial dysplasia" is derived from the two main bones affected by the condition, the clavicles (collarbones) and the cranium (skull). Individuals with CCD typically have underdeveloped or absent clavicles, causing their shoulders to slope or meet in the middle of the chest. This abnormality may lead to limited shoulder movement and a characteristic posture. Additionally, CCD affects the skull, resulting in a delayed closure of the fontanelles (spaces between the skull bones) and the sutures (fibrous joints connecting the skull bones). This delayed closure can lead to a larger than average head size and a characteristic "soft spot" on the top of the head.
Other physical features of CCD may include a short stature, dental abnormalities such as overcrowding, a high arched palate, and supernumerary (extra) teeth. These dental abnormalities can cause difficulties with speech and eating.
Cleidocranial dysplasia is a genetically inherited condition caused by mutations in the RUNX2 gene. It follows an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition to their offspring. The management of CCD involves a multidisciplinary approach, including dental care, orthopedic interventions, and speech therapy.
The word "Cleidocranial Dysplasia" derives from the combination of three Greek roots: "cleido", meaning "clavicle" or "collarbone"; "cranio", meaning "skull"; and "dysplasia", meaning "abnormal development".
Specifically, "cleido" stems from the Greek word "kleis", which means "key" or "lock", referring to the clavicle's shape resembling a key. "Cranio" comes from the Greek term "kranion", which means "skull". Lastly, "dysplasia" originates from the Greek roots "dys", meaning "bad" or "abnormal", and "plasis", meaning "formation" or "development".