Craniofacial Fibrous Dysplasia

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What Is Craniofacial Fibrous Dysplasia?

Craniofacial fibrous dysplasia is a form of fibrous dysplasia. This is a rare condition that can affect any bone in the body, especially the long bones in the legs and arms. When it affects the bones of the face or skull, it is known as craniofacial fibrous dysplasia, or facial fibrous dysplasia.

This noncancerous disorder causes bone to be replaced with a brittle, scar-like (fibrous) tissue that isn't dense like normal bone. This makes your child's face prone to fractures and changes in appearance.

Craniofacial fibrous dysplasia may lead to a shift in facial features. You may notice an unevenness (asymmetry) of the eyes, cheeks, or jaw, or misaligned teeth, including a bad bite. When bones are severely deformed, this can affect breathing or compress nerves, leading to loss of vision or hearing.

The disorder usually develops in childhood between the ages of 3 and 15. It doesn't spread beyond the affected bones. It is not malignant and not known to be passed down in families.


Fibrous Dysplasia Causes

Fibrous dysplasia has been linked to a gene mutation that causes bone cells to make an abnormal type of fibrous bone. Although the abnormal bone begins to form before birth, it is often not discovered until childhood, adolescence, or even adulthood.

Types of Fibrous Dysplasia

Fibrous dysplasia has two primary forms:

Monostotic (affects only one bone region) is the most common type of the disorder. It's only active during a child's growth and becomes inactive when a child reaches skeletal maturity.

Polyostotic (affects more than one bone region) occurs before age 10 and can remain active throughout life.

McCune-Albright syndrome is a rare type of polyostotic fibrous dysplasia that affects the bones and skin. It's linked to hormonal imbalance and can also cause early puberty or brown patches on the skin. Craniofacial fibrous dysplasia is often severe in this syndrome.

Symptoms & Diagnosis

Craniofacial Fibrous Dysplasia Symptoms

In some cases, craniofacial fibrous dysplasia doesn't cause any outright symptoms. A family member who hasn't seen the child in a while may notice an unevenness in their facial features or a dentist may note problems with the teeth or bite. Indications of craniofacial fibrous dysplasia may include:

  • Facial asymmetry.
  • An unstable or shifting facial structure.
  • Vision and hearing problems caused by compression of the optic nerve or acoustic nerve.
  • Breathing issues due to an obstructed nasal airway.
  • A misaligned jaw or bite.

Craniofacial Fibrous Dysplasia Diagnosis

At UPMC Children's Hospital of Pittsburgh, doctors diagnose craniofacial fibrous dysplasia with a physical exam and imaging tests. An x-ray or CT scan is the best way to see the disease since the bone lesions (the areas of bone that are changed)have a distinct appearance. When there aren't symptoms to indicate the disorder, it may be found during an x-ray or CT scan taken for an unrelated reason.

Other tests your doctor may recommend include:

  • An MRI.
  • A CT scan.
  • A radioisotope bone scan.
  • Blood tests to check endocrine function.
  • A biopsy.


Fibrous Dysplasia Treatment

At UPMC Children's Cleft-Craniofacial Center, our team of experts — pediatric specialists in plastic surgery, neurosurgery, ophthalmology, dentistry, and other areas — works together to develop a coordinated care plan individualized for your child. Treatment of craniofacial fibrous dysplasia will depend on:

  • The affected bones and structures.
  • The severity of the condition.
  • Your child's overall health and symptoms.

If the disease isn't causing any symptoms, your doctor will likely recommend monitoring of your child's development.

Medicine for craniofacial fibrous dysplasia

Bisphosphonates are a type of medicine that may prevent bone fractures. They reduce bone breakdown and increase bone density. They help lessen pain and increase bone density.

Surgery for craniofacial fibrous dysplasia

For children with craniofacial fibrous dysplasia, surgery can help restore function and improve quality of life. Surgical options depend on the location of the abnormal bone growth and the severity of the impact. Surgical options may include:

  • Boney recontouring to correct facial asymmetry.
  • Jaw surgery to realign the upper or lower jaw so teeth fit together properly.
  • Reshaping the eye socket to create space for the eye and improve vision.
  • Removing the abnormal bone and reconstructing with a bone graft or other materials.

Before surgery, your child's care team will discuss the procedure with you to ensure you understand the goals of surgery and what will happen. Your doctor will also provide you with a postsurgery follow-up schedule specific to your child's needs.

Contact the Cleft-Craniofacial Center at UPMC Children's

To make an appointment or learn more about our program, call us at 412-692-8650.