Craniocleidodysostosis: A genetic (inherited) disorder of bone development characterized by:
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.
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.
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).
Craniology: The study of variations in size, shape, and proportion of the skull (cranium). Also known as phrenology, it was a pseudoscience of the 18th and 19th centuries based on the belief that a person’s character could be learned by looking with care at the shape of their head and noting each and every bump […]
- Craniometaphyseal dysplasia
Craniometaphyseal dysplasia: An inherited skeletal condition that involves abnormal bone formation and abnormal mineralization of the skull as well as the long bones. There is increased density of craniofacial bones beginning at the base of the skull during early childhood. The progressive thickening of the bones of the skull can lead to severe visual and […]
- Craniopagus parasiticus
Craniopagus parasiticus: Conjoined twins joined at the head (craniopagus) in which a rudimentary head (with little or no body) is attached to the head of the larger and usually more normal twin. The rudimentary head was thought to be parasitic.
Craniopharyngioma: A benign brain tumor that develops from embryonic tissue that forms part of the pituitary gland. Pressure on the pituitary gland by the tumor reduces the availability of the hormone vasopressin, raising the pressure within the cranium. A craniopharyngioma usually includes hard, calcified components within the tumor itself and affects the development of the […]
Craniosynostosis: Premature fusion of the sutures between the growth plates in an infant’s skull that prevents normal skull expansion. Craniosynostosis can cause an abnormally shaped skull. Premature closure of all the sutures can cause microcephaly (an abnormally small head), which prevents the normal growth of the brain and results in mental retardation. Treatment usually involves […]