Dysplasia, 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).
- Dysplasia, congenital hip
Dysplasia, congenital hip: The abnormal formation of the hip joint in which the ball at the top of the thighbone (the femoral head) is not stable within the socket (the acetabulum). The ligaments of the hip joint may also be loose and stretched. The degree of instability or looseness varies. A baby born with this […]
- Dysplasia, thanatophoric
Dysplasia, thanatophoric: A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life. In thanatophoric dysplasia the bones […]
- Dysplastic nevus
Dysplastic nevus: An atypical mole whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders, are often mixed in color and present in large numbers. A dysplastic nevus may be a marker for a person at risk for melanoma, especially if […]
- Dysplastic nevi
Dysplastic nevi: Atypical moles whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders and are often mixed in color . People with multiple dysplastic nevi may be at increased risk for melanoma
Our Symptoms article on Shortness of Breath (Dyspnea) provides a comprehensive look at the possible causes and treatments of Shortness of Breath (Dyspnea). Dyspnea: Difficult or labored breathing; shortness of breath. Dyspnea is a sign of serious disease of the airway, lungs, or heart. The onset of dyspnea should not be ignored; it is reason […]