Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

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 to ...

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, the ...

, 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 Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position pro ...

foramina In anatomy and osteology, a foramen (;Entry "foramen"
in

, 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 showin ...

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 los ...

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 signifi ...

, and

paralysis Paralysis (also known as plegia) is a loss of motor function in one or more muscles. Paralysis can also be accompanied by a loss of feeling (sensory loss) in the affected area if there is sensory damage. In the United States, roughly 1 in 50 ...

, 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 R ...

'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 practic ...

'' drew public attention to the case of Roy Lee "Rocky" Dennis, an

American American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, pe ...

boy with disorder who died at the age of 16, in 1978. In the American

medical drama A medical drama is a television show or film in which events center upon a hospital, an ambulance staff, or any medical environment. Most recent medical drama (film and television), dramatic programming go beyond the events pertaining to the chara ...

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 se ...

'' episode " Yesterday",

Jesse Plemons Jesse Plemons (; born April 2, 1988) is an American actor. He began his career as a child actor and achieved a career breakthrough with his major role as Landry Clarke in the NBC drama series '' Friday Night Lights'' (2006–2011). He subseque ...

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.

References

External links

Craniodiaphyseal dysplasia
a
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

Cause

Diagnosis

In media

See also

References

External links