Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare
autosomal recessive bone disorder that causes
calcium
Calcium is a chemical element with the symbol Ca and atomic number 20. As an alkaline earth metal, calcium is a reactive metal that forms a dark oxide-nitride layer when exposed to air. Its physical and chemical properties are most similar t ...
to build up in the
skull
The skull is a bone protective cavity for the brain. The skull is composed of four types of bone i.e., cranial bones, facial bones, ear ossicles and hyoid bone. However two parts are more prominent: the cranium and the mandible. In humans, th ...
, disfiguring the facial features and reducing
life expectancy
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, current age, and other demographic factors like sex. The most commonly used measure is life expectancy at birth ...
.
These calcium deposits decrease the size of
cranial , and can decrease the circumference of the cervical spinal canal. In the few cases recorded, most died in childhood.
Cause
The underlying genetics are uncertain.
Diagnosis
Among the
medical sign
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showi ...
s are
dacryocystitis
Dacryocystitis is an infection of the lacrimal sac, secondary to obstruction of the nasolacrimal duct at the junction of lacrimal sac. The term derives from the Greek ''dákryon'' ( tear), ''cysta'' (sac), and ''-itis'' (inflammation). It causes ...
,
seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with l ...
s,
intellectual disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signif ...
, 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.
In media
Peter Bogdanovich
Peter Bogdanovich (July 30, 1939 – January 6, 2022) was an American director, writer, actor, producer, critic, and film historian.
One of the " New Hollywood" directors, Bogdanovich started as a film journalist until he was hired to work on ...
's 1985 drama film ''
Mask
A mask is an object normally worn on the face, typically for protection, disguise, performance, or entertainment and often they have been employed for rituals and rights. Masks have been used since antiquity for both ceremonial and pra ...
'' drew public attention to the case of
Roy Lee "Rocky" Dennis, an
American boy with disorder who died at the age of 16, in 1978.
In the American
medical drama ''
Grey's Anatomy
''Grey's Anatomy'' is an American medical drama television series that premiered on March 27, 2005, on ABC as a mid-season replacement. The series focuses on the lives of surgical interns, residents, and attendings as they develop into s ...
'' episode "
Yesterday",
Jesse Plemons plays a teenage boy with lionitis.
The main character of the two-issue comic book miniseries ''
Friday the 13th: How I Spent My Summer Vacation'' by
Wildstorm Productions
Wildstorm Productions, (stylized as WildStorm), is an American comic book imprint. Originally founded as an independent company established by Jim Lee under the name "Aegis Entertainment" and expanded in subsequent years by other creators, Wildst ...
is a 13-year-old boy with the disorder.
In the anthology television series ''
American Horror Story
''American Horror Story'' is an American anthology horror television series created by Ryan Murphy and Brad Falchuk for the cable network FX. The first installment in the '' American Story'' media franchise, each season is conceived as a ...
'' season 1, Beauregard, the brother of Tate and Adelaide, has lionitis.
See also
*
Leontiasis ossea
References
External links
Craniodiaphyseal dysplasiaa
orpha.net
{{Congenital malformations and deformations of musculoskeletal system
Congenital disorders of musculoskeletal system
Autosomal recessive disorders
Genetic disorders with OMIM but no gene
Rare diseases