McCune-Albright Syndrome

By: Victoria S.

What is McCune-Albright Syndrome?

McCune-Albright Syndrome is a disorder that affects the bones and pigmentation of the skin. This Syndrome is caused by mutations in the GNAS1 gene. Some (not all) of the patient's cells contain this gene, called Mosaicism. Patients of this syndrome develop patches of abnormal scar-like (fibrous) tissues in the bones, which is a condition called polyostotic fibrous. Polyostotic means lesions may show up in many bones; many times are restricted to one side of the body.

Need More Facts?

How or when does this disease occur?

People are not sure how often McCune-Albright Syndrome occurs, but it does not seem to be inherited. It affects both males and females of all backgrounds.

What tests are done to diagnose this?

Many different types of medical tests are done to confirm a diagnosis of McCune-Albright syndrome. Blood tests are done to check for abnormally high levels of sex hormones (in precocious puberty), and growth hormone. Thyroid hormone levels are checked as well, and X-rays are done to look for fibrous dysplasia (McCune-Albright Syndrome) and fractured bones. A biopsy may be taken of bone tissue and any bumps in the thyroid gland.

Is it life threatening?

Tests were done to prove that this disease is non-fatal.

How is the patients life affected?

This disease impacts their life so much. It is very hard for people with disease to walk, and many times have to be immobilized. Some people that are lucky, like Lauren Ruotolo (see below), get to live out a close-to-normal life. This disease is very hard to live out normally because as the patient grow older, they obviously are going to gain weight, and with that weight comes more pressure on the bones. When the bones are pressured they snap, and that's how most people with McCune-Albright Syndrome fracture bones.

"McCune-Albright Syndrome." Rare Diseases. N.p., n.d. Web. 28 Feb. 2013. <>.


Some of the symptoms of McCune-Albright Syndrome are;

-Fractured bones

-Gigantism (an abnormally large growth)

- Bone deformities in the face

- Large patchy cafe-au-lait spots (birth mark) especially found on the back

Symptoms of McCune-Albright Syndrome

Some Support Groups

  • Making (Website for people to share there own McCune-Albright stories)
" : McCune-Albright Syndrome." : McCune-Albright Syndrome. N.p., n.d. Web. 28 Feb. 2013. <>.

  • Kennedy Krieger Institute
"Albright Clinic." Kennedy Krieger Institute |. N.p., n.d. Web. 28 Feb. 2013. <>.

Lauren Ruotolo's Story

"I'm a 4-foot-2 woman in a 6-foot world." These are the words Lauren Ruotolo uses to describe herself. Lauren Ruotolo was 9 months old when she found out she had McCune-Albright Syndrome, and had to struggle through life to get where she is. This is just some of her incredible story: "I was born with a mysterious and rare condition called McCune-Albright syndrome. Some researchers say it occurs in one in 100,000 people; others say one in a million. It's not inherited — it's random. Essentially I have bones that can be easily bruised and broken, and very short legs. But I make up for that by wearing the tallest, most fabulous high heels I can find.... People often ask where I get my attitude, and I credit my parents, back home on Long Island. They always treated me just like everyone else, including my two younger sisters, Addy and Emily, who don't happen to share my syndrome. I was just 5 when my mom and dad guided me through one of the biggest decisions I'd ever have to make: whether to sit in a wheelchair for the rest of my life or to walk with crutches. (I'd been walking on my own up till that point, but my bones were getting weaker, and I kept falling and breaking my hip.) I chose to walk. My doctors would prefer that I wear sneakers. They're worried that I'll fall and break my bones (I take calcium supplements to keep them strong). But unlike a couple of Miss Americas of late, I have yet to take a tumble in my stilettos. To me, fab shoes equal freedom: The higher they are, the better I feel. In heels, after all, I can see more than just my forehead in the mirror."

Read more: McCune Albright Syndrome - High Heels - Lauren Ruotolo - Marie Claire - See more at:

"Get Shorty." Marie Claire. N.p., n.d. Web. 28 Feb. 2013.

Any More Questions?

1. "McCune-Albright Syndrome." - Genetics Home Reference. N.p., n.d. Web. 28 Feb. 2013 <>.

2. "McCune-Albright Syndrome." Rare Diseases. N.p., n.d. Web. 28 Feb. 2013. <>.

3.Board, A.D.A.M. Editorial. McCune-Albright Syndrome. U.S. National Library of Medicine, 18 Jan. 0001. Web. 27 Feb. 2013. <>.

McCune-Albright Syndrome