Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium

Calcium

Calcium is the chemical element with the symbol Ca and atomic number 20. It has an atomic mass of 40.078 amu. Calcium is a soft gray alkaline earth metal, and is the fifth-most-abundant element by mass in the Earth's crust...

 to build up in the skull

Human skull

The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...

, disfiguring the facial features and reducing life expectancy

Life expectancy

Life expectancy is the expected number of years of life remaining at a given age. It is denoted by ex, which means the average number of subsequent years of life for someone now aged x, according to a particular mortality experience...

.

These calcium deposits decrease the size of cranial

Human skull

The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...

 foramina

Foramina of skull

The human skull has numerous holes through which cranial nerves, arteries, veins and other structures pass.-List of foramina and the structures that pass through them:...

, 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.

Diagnosis

Among the medical sign

Medical sign

A medical sign is an objective indication of some medical fact or characteristic that may be detected by a physician during a physical examination of a patient....

s are dacryocystitis

Dacryocystitis

Dacryocystitis is an infection of the nasolacrimal sac, frequently caused by nasolacrimal duct obstruction. The term derives from the Greek dákryon , cyst , and -itis . It causes pain, redness, and swelling over the inner aspect of the lower eyelid and epiphora...

, seizure

Seizure

An epileptic seizure, occasionally referred to as a fit, is defined as a transient symptom of "abnormal excessive or synchronous neuronal activity in the brain". The outward effect can be as dramatic as a wild thrashing movement or as mild as a brief loss of awareness...

s, mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, and paralysis

Paralysis

Paralysis is loss of muscle function for one or more muscles. Paralysis can be accompanied by a loss of feeling in the affected area if there is sensory damage as well as motor. A study conducted by the Christopher & Dana Reeve Foundation, suggests that about 1 in 50 people have been diagnosed...

, each of which is a complication

Complication (medicine)

Complication, in medicine, is an unfavorable evolution of a disease, a health condition or a medical treatment. The disease can become worse in its severity or show a higher number of signs, symptoms or new pathological changes, become widespread throughout the body or affect other organ systems. A...

 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.

Depiction

Peter Bogdanovich

Peter Bogdanovich

Peter Bogdanovich is an American film historian, director, writer, actor, producer, and critic. He was part of the wave of "New Hollywood" directors, which included William Friedkin, Brian De Palma, George Lucas, Martin Scorsese, Michael Cimino, and Francis Ford Coppola...

's 1985 film

1985 in film

-Events:* 3 December - Roger Moore steps down from the role of James Bond after twelve years and seven films. He is replaced by Timothy Dalton.* The Academy Award for Best Picture was won by Out Of Africa, while the highest grossing film was Back to the Future.* Bliss wins AFI Award for best Movie...

 Mask

Mask (film)

Mask is a 1985 American biographical drama film directed by Peter Bogdanovich, starring Cher, Sam Elliott, and Eric Stoltz. Dennis Burkley and Laura Dern are featured in supporting roles. Cher received the 1985 Cannes Film Festival award for Best Actress....

drew public attention to the case of Roy L. "Rocky" Dennis

Roy L. Dennis

Roy Lee "Rocky" Dennis was an American boy afflicted with craniodiaphyseal dysplasia, an extremely rare, sclerotic bone disorder. The condition usually results in neurological disorders and death during childhood. His body was donated to UCLA Medical Center after he died...

, an American

United States

The United States of America is a federal constitutional republic comprising fifty states and a federal district...

 boy who died of the disorder in 1978.

In the American medical television series comedy-drama

Comedy-drama

Comedy-drama is a genre of theatre, film and television programs which combines humorous and serious content.-Theatre:Traditional western theatre, beginning with the ancient Greeks, was divided into comedy and tragedy...

 Grey's Anatomy

Grey's Anatomy

Grey's Anatomy is an American medical drama television series created by Shonda Rhimes. The series premiered on March 27, 2005 on ABC; since then, seven seasons have aired. The series follows the lives of interns, residents and their mentors in the fictional Seattle Grace Mercy West Hospital in...

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

Wildstorm

WildStorm Productions, or simply WildStorm, published American comic books. Originally an independent company established by Jim Lee and further expanded upon in subsequent years by other creators, WildStorm became a publishing imprint of DC Comics in 1999...

is a 13-year old boy suffering from the disorder (with its effects and name being stated).

External links

• Craniodiaphyseal dysplasia at orpha.net