Craniodiaphyseal dysplasia

Classification	D ICD-10: M85.2; OMIM: 218300; MeSH: C562940;
External resources	Orphanet: 1513;

Craniodiaphyseal dysplasia
Other names	CDD or Lionitis
	Craniodiaphyseal dysplasia has an autosomal recessive pattern of inheritance

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. In the few cases recorded, most of the sufferers died in childhood.

Cause

The underlying genetics are uncertain.^[2]

Diagnosis

Among the medical signs are dacryocystitis, seizures, intellectual disability, 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 widely spaced eyes.^[3]

Society

Peter Bogdanovich's 1985 drama film Mask drew public attention to the case of Roy L. "Rocky" Dennis, an American boy who died of the disorder in 1978.

In the American medical drama Grey's Anatomy episode "Yesterday", Jesse Plemons plays a teenage boy suffering from lionitis. The main character of the two-issue comic book miniseries Friday the 13th: How I Spent My Summer Vacation by Wildstorm Productions is a 13-year-old boy suffering from the disorder. In the anthology television series American Horror Story season 1, Beauregard, the brother of Tate and Adelaide, suffered from lionitis.

References

^ "OMIM Entry - 218300 - CRANIODIAPHYSEAL DYSPLASIA; CDD". omim.org. Retrieved 9 July 2017.
^ Brueton LA, Winter RM (November 1990). "Craniodiaphyseal dysplasia". J. Med. Genet. 27 (11): 701–6. doi:10.1136/jmg.27.11.701. PMC 1017262. PMID 2277386.
^ Reichenberger, Ernst; Chen, I.-Ping (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Craniometaphyseal Dysplasia, Autosomal Dominant", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301634, retrieved 2021-01-18

External links

Craniodiaphyseal dysplasia at orpha.net

[1] "OMIM Entry - 218300 - CRANIODIAPHYSEAL DYSPLASIA; CDD". omim.org. Retrieved 9 July 2017.

[pmid2277386-2] Brueton LA, Winter RM (November 1990). "Craniodiaphyseal dysplasia". J. Med. Genet. 27 (11): 701–6. doi:10.1136/jmg.27.11.701. PMC 1017262. PMID 2277386.

[3] Reichenberger, Ernst; Chen, I.-Ping (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Craniometaphyseal Dysplasia, Autosomal Dominant", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301634, retrieved 2021-01-18

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Craniodiaphyseal dysplasia
Other names	CDD or Lionitis

Craniodiaphyseal dysplasia has an autosomal recessive pattern of inheritance^[1]