Dysostosis, cleidocranial
A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido-“ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc. The disorder is transmitted in an autosomal dominant manner. A parent with the condition has a 50:50 chance that each of their children will have the condition. Boys and girls stand an equal chance of being affected. The gene for the condition has been found on chromosome 6 (specifically, in band p21). The gene is for the transcription factor CBFA1 (core-binding factor alpha subunit 1). Mutations of CBFA1 cause this disorder. A possible example of this disorder has been found in the skull of a Neanderthal man. (The patient could not be interviewed as to family history).

Medical dictionary. 2011.

Look at other dictionaries:

  • Cleidocranial dysplasia — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • Cleidocranial dysostosis — Classification and external resources Hypoplasia of the clavicles and bell shaped rib cage in the patient with CDD ICD 10 Q …   Wikipedia

  • cleidocranial dysostosis — ▪ medicine also called  cleidocranial dysplasia        rare congenital, hereditary disorder characterized by collarbones that are absent or reduced in size, skull abnormalities, and abnormal dentition. The shoulders may sometimes touch in front… …   Universalium

  • dysostosis — SYN: dysosteogenesis. [dys + G. osteon, bone, + osis, condition] acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome …   Medical dictionary

  • Cleidocranial dysostosis — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • cleidocranial dysostosis — a congenital defect of bone formation in which the skull bones ossify imperfectly and the collar bones (clavicles) are absent …   The new mediacal dictionary

  • Дизостоз Ключично-Черепной (Cleidocranial Dysostosis) — врожденный дефект образования костей, при котором кости черепа окостеневают не полностью, а ключицы отсутствуют. Источник: Медицинский словарь …   Медицинские термины

  • CCD (cleidocranial dysostosis) — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • Osteochondrodysplasia — Classification and external resources ICD 10 Q77 Q78 MeSH …   Wikipedia

  • CLCD — cleidocranial dysostosis …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”