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Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Disease at a Glance. Summary. An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion ...
Learn about diagnosis and specialist referrals for Craniodiaphyseal dysplasia, autosomal dominant.
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
May 23, 2012 · Description. Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990 ).
Aug 1, 2019 · Craniodiaphysial dysplasia is an extremely rare genetic disorder characterized by a severe form of bone dysplasia and a distinctive facial dysmorphisms, as a result of a massive generalized hyperostosis and sclerosis, primarily involving the facial bones and the skull.
Mar 1, 2020 · Craniodiaphyseal dysplasia is a very rare autosomal recessive disorder. It is characterized by bone dysplasia, massive bone sclerosis and hyperostosis. It characteristically affects the facial bones causing severe facial deformity.
