Craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia
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.[1]

Contents

Diagnosis

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.

Craniodiaphyseal dysplasia has an autosomal recessive pattern of inheritance.

Depiction

Peter Bogdanovich's 1985 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 television series comedy-drama Grey's Anatomy episode "Yesterday", a teenage boy is depicted with lionitis.

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).

References

  1. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1017262. 

External links

v · d · eCongenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
Appendicular
limb / dysmelia
hand deformity:
Lower
hip:
Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation
foot deformity:
varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe
Either / both
dactyly / digit:
reduction deficits / limb:
Acheiropodia · ectromelia (Phocomelia · Amelia · Hemimelia)
multiple joints:
Axial
Craniofacial dysostosis:
Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher-Collins syndrome
other:
spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization
Thoracic skeleton
sternum:

M: JNT

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)

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