Dysostosis, cleidocranial
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).
Read Also:
- Dysmotility syndrome
Dysmotility syndrome: A vague, descriptive term used to describe diseases of the muscles of the gastrointestinal tract (esophagus, stomach, small and large intestines) in which the muscles do not work normally (hence the term dysmotility). Other terms that are sometimes used for dysmotility problems are gastroparesis when the stomach is involved, and chronic intestinal pseudo-obstruction […]
- Dyspareunia
Dyspareunia: Pain during sexual intercourse. There are many causes of dyspareunia, including vaginal infection or dryness. Treatment is directed toward the underlying cause and vaginal lubricant jelly can be of help.
- Dyspepsia
Indigestion. A condition characterized by upper abdominal symptoms that may include pain or discomfort, bloating, feeling of fullness with very little intake of food , feeling of unusual fullness following meals, nausea, loss of appetite, heartburn, regurgitation of food or acid, and belching. The term dyspepsia is often used for these symptoms when they are […]
- Dyspeptic
Dyspeptic: Pertaining to dyspepsia, a term that is probably more often encountered today in advertising than in medicine. “Dyspepsia” refers to nondescript, nonspecific upper abdominal symptoms which may include discomfort, bloating, a feeling of unusual fullness with very little intake of food (early satiety) or following meals (postprandial fullness), nausea, loss of appetite, heartburn, regurgitation […]
- Dysphagia
Dysphagia: Difficulty swallowing. Dysphagia is due to abnormal nerve or muscle control. It is common, for example, after a stroke. Dysphagia can compromise nutrition and hydration and may lead to aspiration pneumonia and dehydration.