Cleidocranial Dysplasia || Know It-Everything you need to know!

Everything you need to know.... Know It! Everything you need to know. Helloo Friends! In this video, we are going to see about, Cleidocranial Dysplasia. Cleidocranial dysplasia is an autosomal dominant disorder, characterized by a condition, that primarily affects the development of the bones and teeth. Cleidocranial dysplasia occurs in approximately, 1 per million individuals worldwide. Individuals with cleidocranial dysplasia usually have, underdeveloped or absent collarbones (clavicles). As a result, their shoulders are narrow and sloping, and it can be brought unusually close together in front of the body, and in some cases, the shoulders can be made to meet in the middle of the body. Affected individuals may have, short, tapered fingers and broad thumbs; short forearms; flat feet; knock knees; scoliosis. Characteristic facial features may include: a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw. Causes: mutations in RUN X 2 are the only know genetic cause of CCD. Deletion, missense, nonsense, and frameshift mutations of RUN X 2 have been identified in CCD patients. RUN X 2 is required for several key steps during skeletal development and maintenance, including osteoblast differentiation, chondrocyte hypertrophy, and vascular invasion of cartilage. Therefore, aberrant function of RUN X 2 affects both endochondral and intramembranous bone formation. SURGICAL TREATMENT: Autotransplantation of teeth has been shown to be a successful strategy to treat older patients. Surgical treatment of the bony defects of the skull is often performed to address esthetic concerns. Don't Forget to Like this video. For more videos Hit the Subscribe Button... See you in the next video! Cleidocranial Dysplasia, MBBS 1st year, know it, everything you need to know, animated mbbs videos, mbbs animation video, whiteboard animation, mbbs whiteboard animation videos, mbbs important topics, important terms in life, ************************************************************************** DISCLAIMER: This Channel DOES NOT Promote or encourage Any illegal activities , all contents provided by This Channel is meant for EDUCATIONAL PURPOSE only . Copyright Disclaimer Under Section 107 of the Copyright Act 1976, allowance is made for "fair use" for purposes such as criticism, comment, news reporting, teaching, scholarship, and research. Fair use is a use permitted by copyright statute that might otherwise be infringing. Non-profit, educational or personal use tips the balance in favor of fair use. ************************************************************************** Music in this video: Track : Alan Walker - Fade [ NCS release ] Music provided by nocopyrightsound. Watch :    / ncs   Free Download/Stream :https://spoti.fi/NCS **************************************************************************