Craniodiaphyseal dysplasia Classification and external resources OMIM 218300
Craniodiaphyseal dysplasia (also known as CDD or 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 also decrease the hole in the cervical spinal canal. In the few cases recorded, most of the sufferers died in childhood.
The underlying genetics are uncertain.
Among the medical signs are dacryocystitis, seizures, mental retardation, and paralysis, each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been a difference of the size of the eyes.
The main character of the two-issue comic book miniseries Friday the 13th: How I Spent My Summer Vacation by Wildstorm is a 13-year old boy suffering from the disorder (with its effects and name being stated).
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3) Appendicular
limb / dysmeliahand deformity:Lowerhip:knee:foot deformity:Either / bothdactyly / digit:reduction deficits / limb:multiple joints:
AxialCraniofacial dysostosis:other:Thoracic skeletonribs:sternum:
anat(h/c, u, t, l)/phys
noco(arth/defr/back/soft)/cong, sysi/epon, injr
proc, drug(M01C, M4)
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