Craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia (pronounced: kray-nee-oh-dye-uh-fiz-ee-uhl dis-pla-see-uh), also known as CDD or Lionitis, is a rare, severe bone disorder that primarily affects the skull and long bones in the arms and legs.

Etymology

The term "Craniodiaphyseal dysplasia" is derived from the Greek words kranion (meaning skull), diaphysis (referring to the shaft of a long bone), and dysplasia (meaning abnormal growth or development).

Symptoms

The symptoms of Craniodiaphyseal dysplasia include facial deformity, hearing loss, vision impairment, and respiratory problems. The severity of these symptoms can vary widely among affected individuals.

Causes

Craniodiaphyseal dysplasia is caused by mutations in the SOST gene. This gene provides instructions for making a protein that regulates bone growth and development.

Diagnosis

Diagnosis of Craniodiaphyseal dysplasia is typically based on a clinical examination, genetic testing, and imaging studies such as X-rays and CT scans.

Treatment

There is currently no cure for Craniodiaphyseal dysplasia. Treatment is focused on managing symptoms and may include surgery, physical therapy, and assistive devices.

Related Terms

• Bone disorder
• Facial deformity
• Hearing loss
• Vision impairment
• Respiratory problems
• SOST gene
• Genetic testing
• X-ray
• CT scan
• Surgery
• Physical therapy
• Assistive devices

External links

• Medical encyclopedia article on Craniodiaphyseal dysplasia
• Wikipedia's article - Craniodiaphyseal dysplasia

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