Craniocleidodysostosis is a rare genetic condition that affects the development of bones, particularly those in the skull, collarbone, and spine. The spelling of this word can be daunting, but it can be broken down into its individual parts: "crani-o" means skull, "cleido-" means collarbone, "dys" means abnormal or difficult, and "ostosis" means bone density. In IPA (International Phonetic Alphabet) transcription, it is pronounced /ˌkræni.oʊˌklaɪ.doʊˌdɪ.sɑs.toʊ.sɪs/. Despite its complexity, proper spelling is crucial for medical professionals when communicating about this condition.
Craniocleidodysostosis is a rare genetic disorder characterized by abnormal development and functioning of the bones of the skull and collarbone. The term "craniocleidodysostosis" is derived from the Greek words "cranium" (skull), "cleido" (clavicle/collarbone), "dys" (abnormal) and "ostosis" (formation of bone).
Individuals with craniocleidodysostosis typically exhibit several distinct features. They may have an abnormally shaped skull due to the premature fusion of certain cranial bones, leading to a shorter and broader head. The collarbones may be underdeveloped, resulting in limited mobility of the shoulders and restricted arm movement. Additionally, individuals with this condition often have facial abnormalities, such as a prominent forehead, widely spaced eyes, and a small, recessed chin.
The inheritance pattern of craniocleidodysostosis is autosomal dominant, meaning a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. The specific gene responsible for this disorder, known as the "CLCD1" gene, is located on chromosome 6.
As this condition affects the development of bones, treatments for craniocleidodysostosis primarily focus on managing the physical symptoms and improving functionality. These may include surgical interventions to correct cranial abnormalities, physical therapy to enhance range of motion, and orthopedic measures to address skeletal deformities.
Due to the rarity of craniocleidodysostosis, a multidisciplinary approach involving medical geneticists, orthopedic surgeons, and other specialists is often required to provide comprehensive care and support for individuals living with this condition.
A congenital condition marked by deficient and defective ossification of the clavicles and bones of the skull and face.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "craniocleidodysostosis" is formed by combining several medical terms:
1. "Cranio-" comes from the Greek word "kranion" meaning "skull" or "cranium".
2. "Cleido-" is derived from the Greek word "kleis" meaning "clavicle" or "collarbone".
3. "Dys-" originates from the Greek word "dys" meaning "abnormal" or "difficult".
4. "Ostosis" comes from the Greek word "osteon" meaning "bone" and "osis" meaning "condition of".
When these elements are combined, "craniocleidodysostosis" refers to a rare congenital condition characterized by abnormal development of the skull, collarbones, and bones.