What are the other Names for this Condition? (Also known as/Synonyms)

• CDD (Craniodiaphyseal Dysplasia)
• Lionitis

What is Craniodiaphyseal Dysplasia? (Definition/Background Information)

• Craniodiaphyseal Dysplasia (CDD) is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity

(Source: Craniodiaphyseal Dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Craniodiaphyseal Dysplasia? (Age and Sex Distribution)

• Craniodiaphyseal Dysplasia is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Craniodiaphyseal Dysplasia? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Craniodiaphyseal Dysplasia
• A positive family history may be an important risk factor, since CDD can be reportedly inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Craniodiaphyseal Dysplasia? (Etiology)

• It is believed to be a genetic disorder that is inherited in an autosomal recessive/dominant manner

What are the Signs and Symptoms of Craniodiaphyseal Dysplasia?

The signs and symptoms of Craniodiaphyseal Dysplasia may include:

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of the ribs
• Coarse facial features
• Craniofacial hyperostosis
• Diaphyseal thickening
• Frontal bossing
• Intellectual disability
• Macrocephaly
• Wide nasal bridge

Frequently present symptoms in 30-79% of the cases:

(Source: Craniodiaphyseal Dysplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Craniodiaphyseal Dysplasia Diagnosed?

Craniodiaphyseal Dysplasia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Craniodiaphyseal Dysplasia?

The complications of Craniodiaphyseal Dysplasia may include:

• Vision loss
• Speech and hearing impairment
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Craniodiaphyseal Dysplasia Treated?

Presently, there is no cure for Craniodiaphyseal Dysplasia. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Craniodiaphyseal Dysplasia be Prevented?

Currently, Craniodiaphyseal Dysplasia may not be preventable, since it is believed to be a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Craniodiaphyseal Dysplasia? (Outcomes/Resolutions)

• The prognosis of Craniodiaphyseal Dysplasia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Craniodiaphyseal Dysplasia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/