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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

bone disorder that causes

calcium Calcium is a chemical element; it has 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 it ...

to build up in the

skull The skull, or cranium, is typically a bony enclosure around the brain of a vertebrate. In some fish, and amphibians, the skull is of cartilage. The skull is at the head end of the vertebrate. In the human, the skull comprises two prominent ...

, disfiguring the facial features and reducing

life expectancy Human life expectancy is a statistical measure of the estimate of the average remaining years of life at a given age. The most commonly used measure is ''life expectancy at birth'' (LEB, or in demographic notation ''e''0, where '' ...

. These calcium deposits decrease the size of

cranial Standard anatomical terms of location are used to describe unambiguously the anatomy of humans and other animals. The terms, typically derived from Latin or Greek language, Greek roots, describe something in its standard anatomical position. Thi ...

foramina In anatomy and osteology, a foramen (; : foramina, or foramens ; ) is an opening or enclosed gap within the dense connective tissue (bones and deep fasciae) of extant and extinct amniote animals, typically to allow passage of nerves, arter ...

, and can decrease the circumference of the cervical spinal canal. In the few cases recorded, most died in childhood.

Symptoms and signs

Cause

The underlying genetics are uncertain.

Diagnosis

Among the

medical sign Signs and symptoms are diagnostic indications of an illness, injury, or condition. Signs are objective and externally observable; symptoms are a person's reported subjective experiences. A sign for example may be a higher or lower temperature ...

s are

dacryocystitis Dacryocystitis is an infection of the lacrimal sac, secondary to obstruction of the nasolacrimal duct at the junction of the lacrimal sac. The term derives . It causes pain, redness, and swelling over the inner aspect of the lower eyelid and e ...

seizure A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, o ...

intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

, and

paralysis Paralysis (: paralyses; also known as plegia) is a loss of Motor skill, motor function in one or more Skeletal muscle, muscles. Paralysis can also be accompanied by a loss of feeling (sensory loss) in the affected area if there is sensory d ...

, 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.

Society and culture

Peter Bogdanovich Peter Bogdanovich (July 30, 1939 – January 6, 2022) was an American director, writer, actor, producer, critic, and film historian. He started out his career as a young actor studying under Stella Adler before working as a film critic for ''Fi ...

's 1985 drama film ''

Mask A mask is an object normally worn on the face, typically for protection, disguise, performance, or entertainment, and often employed for rituals and rites. Masks have been used since antiquity for both ceremonial and practical purposes, ...

'' 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, p ...

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

medical drama A medical drama is a Television film, television movie or film in which events center upon a hospital, clinic, doctor's office, a paramedic, or any other medical topic or environment. Most recent medical drama (film and television), dramatic progra ...

Grey's Anatomy ''Grey's Anatomy'' is an American medical drama television series focusing on the personal and professional lives of surgical internship (medicine), interns, residency (medicine), residents, and attending physician, attendings at the fictional ...

'' 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 breakthrough with his role as Landry Clarke in the NBC drama series '' Friday Night Lights'' (2006–2011). He subsequently portra ...

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 and Brandon Choi to publish through Image Comics, Wildstorm became a publishing imprint of DC ...

is a 13-year-old boy with the disorder. In the anthology television series ''

American Horror Story ''American Horror Story'' (''AHS'') is an American horror film, horror anthology series, anthology television series created by Ryan Murphy (producer), Ryan Murphy and Brad Falchuk for the Cable television, cable network FX (TV channel), FX. Th ...

'' season 1, Beauregard, the brother of Tate and Adelaide, has lionitis.

References

External links