Fibrous Dysplasia / McCune-Albright Syndrome

Disease Overview

Summary

Fibrous dysplasia / McCune-Albright syndrome (FD/MAS) is an extremely rare disorder that affects the bones, skin and the hormonal (endocrine) system. On average, FD/MAS is diagnosed in children around 5 years of age, but the age of diagnosis can range from 18 months to 16 years of age and sometimes even later in mild cases.^1,2,3

Fibrous dysplasia (FD) refers to abnormal growth and development of fibrous or scar-like tissue within bone and can involve one bone or several bones of the skeleton.¹ This abnormal fibrous tissue weakens the bone, making it fragile and prone to bowing and fracture.⁴ The affected areas may be painful. Depending on the location of the lesion there may be complications such as a progressive abnormal lateral curvature of the spine (scoliosis), loss of mobility, facial deformity and vision and/or hearing loss.^2,4,5

The diagnosis of McCune-Albright syndrome (MAS) is made if the person has FD and one additional extra-skeletal feature or has two or more extra skeletal features alone.¹ These additional extra-skeletal features can include patches of different skin pigmentation (i.e., areas of light-brown skin [hyperpigmented skin macules] with jagged borders) and dysfunction of certain glands that regulate the body’s rate of growth, sexual development and certain other metabolic functions (endocrine system dysfunction).¹ Malfunctioning endocrine glands can result in early puberty, high levels of thyroid hormone (hyperthyroidism), growth hormone excess or hypercortisolism.³

 FD/MAS is caused by a change (variant) in the GNAS gene that occurs randomly and is not inherited from a parent.² This sporadic genetic change is present in only some of the body’s cells (mosaic pattern).⁶ The signs and the symptoms  associated with the disorder vary greatly from person to person, depending upon the specific body cells and tissues that are affected by the gene variant.

FD/MAS treatment is tailored to each individual, focusing on their specific symptoms and severity. Typical treatments for endocrine problems include therapy to help prevent hormone overproduction or block hormone action.³ Management of FD focuses on optimizing function and minimizing disability related to deformity and fractures.⁴

• View Full Report Show Less
• Print / Download as PDF

• Next section >

• < Previous section
• Next section >

Synonyms

• Albright syndrome
• MAS
• FD/MAS
• osteitis fibrosa disseminata
• PFD
• POFD
• polyostotic, fibrous dysplasia
• precocious puberty with polyostotic fibrosis and pigmentation

• < Previous section
• Next section >

• < Previous section
• Next section >

Signs & Symptoms

The signs and symptoms can be noticeable at different ages. Some children are diagnosed as babies because they have visible bone changes or signs that one or more hormone-producing glands are overactive.⁷ Others may not have any symptoms until they’re older, such as during childhood or teenage years. The seriousness of symptoms can also vary a lot between individuals.

Not everyone will have every symptom described below. Each person with FD/MAS is different. Parents should speak with their child’s doctor and care team to understand what symptoms their child may have and what to expect in the future.

The parts of the body most commonly affected by FD/MAS are the bone, skin and endocrine system, which is the body’s system of hormone-producing glands.

Bone

In FD, normal bone is replaced with fibrous (scar-like) tissue, which is called “fibrous dysplasia.” This weaker tissue makes bones more likely to break (fracture).⁴ For some people, a broken bone may be the first sign of the condition. Pain can also occur in the affected bones.

FD can affect many bones (called polyostotic) or just one bone (monostotic).⁸ It often affects bones on just one side of the body (unilateral).⁴

The symptoms depend on which bones are affected. FD can affect any bone, but it most often affects long bones, the skull and facial area (craniofacial area) and the spine and ribs:^5,8,9,10

• In the arms and legs, FD may cause weak bones, deformities and fractures.
• In the ribs, FD can look like swellings and may cause pain.
• In the spine, FD can cause scoliosis (a curve in the spine) that often gets worse over time and can become severe or even life-threatening.
• In the face and skull, FD can lead to a wide range of symptoms such as pain, nasal congestion (stuffy nose), misaligned or moved teeth, uneven jaws, a face that looks asymmetrical, a bulging forehead (frontal bossing), eyes that stick out (proptosis) or eyes that are at different levels (vertical dystopia) and changes to the shape of the skull.

In some people, FD lesions press on nearby nerves, causing nerve-related symptoms. For example, this pressure can affect nerves for vision and hearing, leading to vision loss or hearing problems.²

Rare complications include:⁴

• Osteomalacia, a condition where bones become soft
• Aneurysmal bone cysts, which are fluid or blood-filled areas inside bones that can grow and cause damage

Skin

Some people with FD/MAS may have the following skin changes:

• Skin patches called hyperpigmented macules (formerly called café-au-lait spots) that are light brown areas with irregular, jagged borders and may be seen at birth or appear soon after and often get darker with age¹¹
  • These patches usually stop at the midline (the imaginary line dividing the body into left and right) and often only appear on one side.⁴
• Soft tissue non-cancerous tumors called myxomas that can form under the skin (very rare)⁴

Endocrine system

The endocrine system includes glands that produce hormones, substances that control growth, sexual development and body metabolism. In FD/MAS, these glands can become overactive and produce too much hormone which may result in:

Early puberty, also known as precocious puberty.¹ This means the body starts showing signs of puberty, the stage when a child’s body changes and matures into an adult body too early, because the glands that release sex hormones are overly active.^11,12 In girls, signs include:¹³

• Menstrual periods
• Early breast development

Many affected girls also have ovarian cysts which are fluid-filled sacs in the ovaries.⁴ These cysts can make it harder to get pregnant later.¹³

More than 50% (up to about 85%) of the girls with FD/MAS have early puberty.^4,7 However, only about 10-15% of boys with FD/MAS have early puberty.⁴  Signs and symptoms may include:¹

• Larger penis or testicles
• Thicker, wrinkled skin on the scrotum
• Early growth of pubic and underarm hair
• Body odor

Children with early puberty may grow fast at first, but because they stop growing early due to bones maturing too soon, they often end up being shorter than expected.^4,6

FD/MAS may also affect other glands:

• Thyroid (a butterfly-shaped gland in the neck) which can become enlarged (goiter) or produce too much hormone (hyperthyroidism) presenting with symptoms such as anxiety, tiredness, bulging eyes, sweating, fast heartbeat, weight loss and feeling hot easily and a progressive worsening of the bone problems when hyperthyroidism is uncontrolled¹⁴
• Pituitary gland (a small gland near the brain that controls several other glands) that when affected by FD/MAS can result in increased levels of growth hormone (GH)³ which can lead to rapid growth, larger muscles and sometimes a condition called acromegaly (growth hormone excess after growth plates close)¹⁶
• GH excess may also cause:^{4,6,7, 15}
  • Vision or hearing loss
  • Large head size (macrocephaly)
  • Facial asymmetry
  • Worsening of the bone lesions outside the head
  • High levels of another hormone called prolactin (hyperprolactinemia)
• Adrenal glands (located on top of the kidneys) that when affected can produce too much cortisol, a hormone that helps manage stress and sugar levels and may result in:
  • Neonatal hypercortisolism (neonatal Cushing’s syndrome), a rare but serious condition in some babies with symptoms like:⁴
    • Poor growth
    • High blood pressure
    • Red face
    • Excess body hair

Some people with FD/MAS have hypophosphatemia which means too little phosphate in the blood.⁶ This happens because the abnormal bone tissue releases too much of a protein called FGF23 which prevents the kidneys from keeping phosphate and increases the excretion of phosphate in the urine (hyperphosphaturia) and decreases the levels of phosphate in the blood (hypophosphatemia).^4,17

This can lead to:⁴

• Rickets in children causing bowed legs and short height
• Osteomalacia in adults causing soft bones

People with low phosphate levels (hypophosphatemia) often have early fractures and more deformities and pain.¹⁸

Other possible symptoms of FD/MAS may include:²

• Acid reflux
• Intestinal polyps
• Inflammation of the pancreas (pancreatitis)
• Intramuscular tumors (myxomas)
• Heart problems such as:
  • Fast heart rate (tachycardia)
  • High-output heart failure
  • Enlarged aortic root (the base of the main artery leaving the heart)

The lesions in FD/MAS are not cancer but in very rare cases (less than 1%), FD can turn into a cancer called osteosarcoma.⁴ This is more likely in people who have had radiation therapy or too much growth hormone.^16,19

People with FD/MAS may also have a slightly higher chance, especially if they’ve had too much growth hormone, of developing:²⁰

• Breast cancer
• Liver, bile duct, or pancreatic tumors
• Thyroid or testicular cancer (very rarely)

Rarely, people with FD/MAS may develop bone marrow hypocellularity, which are fewer blood-forming cells in the bone marrow, and pancytopenia, which is low levels of red blood cells, white blood cells and platelets. ²¹

• < Previous section
• Next section >

• < Previous section
• Next section >

Causes

FD/MAS is caused by a change (variant) in a gene called GNAS.^1,3 This gene change occurs after fertilization of the embryo and is therefore not inherited, nor will affected individuals pass the change on to their children.² Affected individuals have some cells with a normal copy of this gene and some cells with the variant gene (mosaic pattern). The variability of symptoms of FD/MAS is due, in part, to the ratio of healthy cells to affected cells.²² Researchers do not know why these somatic changes occur; they appear to develop randomly for unknown reasons (sporadically).

The GNAS gene produces (encodes) a subunit of a protein known as a G-protein. In FD/MAS, a gain-of-function variant in the GNAS gene results in continuous activation of this G-protein. In turn, there is an overproduction of a molecule known as cyclic adenosine monophosphate (cAMP) which is involved in various chemical processes of the body.²²

Overproduction of cAMP contributes to the development of symptoms.⁴ For example, cAMP is involved in the change (differentiation) of osteoblasts in bone. Osteoblasts are immature bone-forming cells that form new bone. The human skeleton is living tissue that is constantly changing (remodeling). It is thought that in FD/MAS there is increased bone turnover. Bone turnover is a normal process in which bone gradually breaks down (bone resorption) and then reforms. Bone turnover involves osteoblasts and cells that control bone resorption (osteoclasts). The interaction between osteoclasts and osteoblasts determines how bone reforms. This interaction is a complex process that involves many factors. Improper differentiation of osteoblasts due to GNAS gene variants is thought to contribute to the development of fibrous dysplasia in individuals with FD/MAS.⁶

When a GNAS variant affects skin or endocrine cells, the additional characteristic symptoms of MAS can develop.

• < Previous section
• Next section >

• < Previous section
• Next section >

Affected populations

The disorder is estimated to affect 1 in 100,000 to 1 in 1,000,000 individuals in the general population.¹ Because the disorder is difficult to diagnose, affected individuals may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of FD/MAS in the general population. FD/MAS affects males and females in equal numbers. Precocious puberty is more common in females.³

• < Previous section
• Next section >

• < Previous section
• Next section >

Disorders with Similar Symptoms

All three, FD/MAS, NF1, and cherubism are genetic conditions that usually begin in childhood. They can sometimes appear even when there’s no family history, due to new random changes in a person’s genes. Skin changes, like areas of darker pigmentation, may show up in all three conditions. Each one also affects bone growth in some way, although the pattern and severity can vary. Because of these shared features, they can sometimes be confused with each other early on.

FD/MAS affects bones throughout the body and often involves hormone imbalances, such as early puberty or thyroid issues. It doesn’t usually include nerve tumors or inherited skin tumors.

NF1 is mainly known for its effects on the skin and nervous system. It can cause benign tumors along the nerves, spots on the skin and sometimes learning difficulties. Bone issues can occur but are less central to the condition than in FD/MAS.

Cherubism mostly affects the jawbones, causing the lower face to swell due to abnormal growth in those areas. It doesn’t involve hormone problems or nerve tumors and is most noticeable in the face. In some people, cherubism can include skin pigment changes similar to FD/MAS and NF1, but it’s primarily a bone condition of the face.

Symptoms of the following disorders can be similar to those of FD/MAS. Comparisons may be useful for a differential diagnosis.

Neurofibromatosis type 1 is a rare genetic condition where people often have light brown spots on their skin (called café-au-lait spots), freckles in unusual places like under the arms or in the groin area and small, non-cancerous lumps on or under the skin. They may also have harmless nodules on the colored part of the eye (called Lisch nodules) and some people develop slow-growing tumors on the nerves that affect vision. Other common features include a larger head, wide-set eyes, short height and curved spine (scoliosis). Some people may have learning or speech difficulties. NF1 is caused by a variant in the NF1 gene and can be inherited or occur spontaneously.

Cherubism is a rare condition that mainly affects the bones of the face. Cherubism mostly affects the jawbones, causing the lower face to swell due to abnormal growth in those areas. It doesn’t involve hormone problems or nerve tumors and is most noticeable in the face. In some people, cherubism can include skin pigment changes similar to FD/MAS and NF1, but it’s primarily a bone condition of the face. This can make the cheeks look round and swollen, hence the name “cherubism.” In more serious cases, the eyes may appear to look upward due to changes in the bones. Some children may also have darker patches on the skin (café-au-lait spots) or wart-like birthmarks. Symptoms usually start showing between ages 3 and 4. Cherubism tends to run in families and affects boys more predictably than girls. A specific variant in the SH3BP2 gene is found in most affected people.

Additional disorders may have specific symptoms that are similar to those seen in MAS such as non-ossifying fibromas, idiopathic central precocious puberty, congenital adrenal hyperplasia, ovarian cancer, osteofibrous dysplasia, Proteus syndrome and Russell-Silver syndrome.³

• < Previous section
• Next section >

• < Previous section
• Next section >

Diagnosis

The diagnosis of FD/MAS may be suspected at birth based upon identification of the characteristic hyperpigmented skin spots. However, for many people, the disorder may not be suspected until late infancy or childhood when precocious puberty develops or when bone deformities become obvious.^1,3 A diagnosis may be confirmed based upon characteristic physical findings (i.e., association of characteristic skin, bone and endocrine differences), a detailed patient history, thorough clinical evaluation and specialized tests including X-ray studies and blood tests. Rarely, genetic testing may be required if the diagnosis is uncertain.

Clinical Testing and Workup
Doctors should examine the entire body for the characteristic hyperpigmented spots and X-ray studies should be combined with bone scans to evaluate the presence and extent of FD.⁴ Blood tests may reveal elevated hormone levels (e.g., estrogen, testosterone, cortisol, thyroid hormone, growth hormone, prolactin, somatomedin C) and increased bone activity which is indicated by elevated levels of alkaline phosphatase.³

Specialized imaging techniques may be used to evaluate bone. Such imaging techniques include computerized tomography (CT) scanning and magnetic resonance imaging (MRI).¹ During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of organs and bodily tissues. The tissue in FD resembles ground glass when seen on X-ray.⁴ These tests may be used to determine how extensively bones are affected.

A bone scan, also known as bone scintigraphy, is used to determine the extent of bone disease.⁴ During this test, a harmless radioactive dye is injected into the affected bone. A special camera that can track the dye as it travels through bone and is used to create a picture of the skeleton and determine all affected areas. Bone biopsy is the surgical removal and microscopic examination of a small sample of affected tissue. A bone biopsy can reveal characteristic changes to bone that occur in individuals with FD and may be necessary to distinguish an FD lesion from other types of growths or tumors if imaging and the diagnostic work up for MAS is unclear.⁴

A highly sensitive, specific genetic test known as polymerase chain reaction (PCR) has been used to detect changes in the GNAS gene that characterize MAS.²³ PCR is a laboratory test that has been described as a form of “photocopying.” It enables researchers to enlarge and repeatedly copy sequences of DNA. As a result, they can closely analyze DNA and more easily identify genes and genetic changes.

• < Previous section
• Next section >

• < Previous section
• Next section >

Standard Therapies

Treatment

The treatment of FD/MAS is directed toward the specific symptoms that are apparent in each individual.¹ At this time, there is no FDA-approved treatment and no cure for the disease.

Treatment may require the coordinated efforts of a team of specialists.⁴ The specialists may include pediatricians, orthopedists, orthopedic surgeons, endocrinologists, dermatologists and other healthcare professionals who may need to work together in a coordinated way for the best management. Psychosocial support for the entire family is essential as well. Although FD/MAS is not inherited, genetic counseling may be helpful for affected individuals and their families.

Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as extent of the disease, the presence or absence of certain symptoms, an individual’s age and general health, and/or other factors. Decisions concerning the use of drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient based upon the specifics of their symptoms, a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects, patient preference and other appropriate factors.

Continued monitoring and management of FD depends on the location and the extent of disease along with other clinical symptoms and may include a combination of clinical evaluation and imaging. For people with craniofacial FD lesions located near vital sensory structures, it is important that they be monitored closely with regular hearing and vision exams.⁴

Surgery is sometimes used for treatment of complications of FD.⁴ The different surgical options for FD depend on multiple factors and careful consideration must be taken as to the location, indication, risks/benefits and surgical approach.  It is essential that all the treatment decisions are made by a multidisciplinary team with expertise in the treatment of FD/MAS be involved.⁴

The range in severity and types of pain in people with FD/MAS makes it difficult to develop treatments that are effective for everyone, therefore, treatment should always be individualized. Pain associated with fibrous dysplasia has been treated with drugs known as bisphosphonates such as IV pamidronate or zoledronate.⁴ These drugs reduce bone turnover by inhibiting bone resorption. Calcium and vitamin D may be given along with the drug.²⁴ It is important that other potential causes of bone pain be excluded (i.e. fractures and hypophosphatemia) and other pain management options for FD related bone pain be trialed before considering treatment with a bisphosphonate. Exercises designed to strengthen the muscles surrounding FD lesions may be recommended and may help to reduce the risk of fracture.⁸

Females with mild precocious puberty may not require treatment but do continue to require close clinical monitoring. Medication may be required if females experience progressive precocious puberty such as bone age advancement, recurrent episodes of vaginal bleeding or psychological distress. Medications include letrozole, which is an aromatase inhibitor and has a long history of safety for the treatment of precocious puberty in FD/MAS.²⁵ Additional drugs have been studied to treat precocious puberty in individuals with FD/MAS including estrogen receptor modulators and antagonists such as tamoxifen, raloxifene and fulvestrant.^26,27 These drugs block or hamper the effects of estrogen in the body. More research is necessary to determine the long-term safety and effectiveness of these drugs for treating precocious puberty in individuals with FD/MAS. Surgical removal of cysts should be avoided.²⁸

Males with precocious puberty may be treated with medications such as aromatase inhibitors including letrozole and testosterone receptor blockers such as bicalutamide.²⁹ Testicular lesions should be monitored.

Precocious puberty in FD/MAS is known as gonadotropin-independent.⁴ Gonadotropins are hormones such as follicle-stimulating hormone and luteinizing hormone that are produced by the pituitary gland during puberty and regulate various actions involved in puberty.²⁵ Precocious puberty (e.g. those not associated with FD/MAS) is either known as central precocious puberty or gonadotropin-dependent precocious puberty and can be successfully treated with gonadotropin-releasing hormone, a hormone that, when used regularly, decreases the amount of these hormones released by the pituitary gland. This drug is not effective for most people with FD/MAS.^29,30 However, in some people, central precocious puberty can develop as a secondary condition and can be successfully treated by long-acting gonadotropin-releasing hormone analogues.⁴

Hyperthyroidism may also be treated with drug therapy, specifically thionamides, which inhibit the production of thyroid hormones. Most individuals with FD/MAS respond favorably to this therapy.³¹ However, hyperthyroidism in FD/MAS is often persistent so in most patients, doctors recommend surgical removal of the thyroid (thyroidectomy) or radioablation.⁴ Iodine is a chemical element used by the thyroid to synthesize thyroid hormones. Nearly all the iodine in a person’s blood is absorbed by thyroid tissue. Radioactive iodine therapy destroys any thyroid tissue that remains after a near-total thyroidectomy. After these procedures, individuals must take hormone replacement therapy for the remainder of their lives to replace the hormones normally produced by the thyroid.³²

Growth hormone excess may be treated by drugs known as long-acting somatostatin analogues such as octreotide.⁴ This class of drugs inhibits the production of growth hormone. A growth hormone receptor antagonist, pegvisomant, has also been used to treat growth hormone excess, although somatostatins have generally proven more effective, particularly in children.¹⁶ Dopamine agonists such as cabergoline may also be considered if hyperprolactinemia is also present.⁴ If medication does not work, surgical removal of the pituitary gland and the destruction of pituitary tissue may be necessary.¹⁶ Radiation therapy should be used with extreme caution.

In some people, hypercortisolism (Cushing’s syndrome) can resolve on its own. Drugs that suppress the production of cortisol may be used and have been effective even in severely affected people. However, Cushing’s syndrome can potentially be a severe complication of MAS and may not respond to drug therapy and some physicians may consider the surgical removal of the adrenal glands (adrenalectomy). Individuals who have an adrenalectomy will receive hormone replacement therapy.³³

Individuals with hypophosphatemia due to FGF23 excess may require treatment with conventional therapy including oral phosphorus supplementation and calcitriol, an activated vitamin D metabolite.³⁴

• < Previous section
• Next section >

• < Previous section
• Next section >

Clinical Trials and Studies

Denosumab is a monoclonal antibody to receptor activator of nuclear kappa-B ligand (RANKL) which is being studied as a potential therapeutic option for FD. While denosumab may offer significant clinical benefits in FD, its potential side effects must be carefully considered, and more research is needed to better understand its safety and optimal management and its use is currently limited to expert care centers for FD/MAS.

Burosumab is a monoclonal antibody to FGF23 with the potential to normalize serum phosphorus levels and is currently being studied in FD.³⁵

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, in the main, contact: www.centerwatch.com

For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

• < Previous section
• Next section >

• < Previous section
• Next section >

References

1. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12. Published 2008 May 19. doi:10.1186/1750-1172-3-12
2. McCune-Albright syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome Accessed April 16, 2025.
3. Gill RS. McCune-Albright Syndrome. Medscape. Last edited: Feb 16, 2024. Available at: https://emedicine.medscape.com/article/127233-overview. Accessed April 16, 2025.
4. Szymczuk V, Florenzano P, de Castro LF, et al. Fibrous Dysplasia / McCune-Albright Syndrome. 2015 Feb 26 [Updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK274564/ Accessed April 16, 2025.
5. Berglund JA, Tella SH, Tuthill KF, et al. Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. J Bone Miner Res. 2018;33(9):1641-1648. doi:10.1002/jbmr.3446
6. Boyce AM, Collins MT. Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation. Endocr Rev. 2020;41(2):345-370. doi:10.1210/endrev/bnz011
7. Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis. 2012;7 Suppl 1(Suppl 1):S4. doi:10.1186/1750-1172-7-S1-S4
8. Paul SM, Gabor LR, Rudzinski S, et al. Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia. Bone. 2014;60:41-47. doi:10.1016/j.bone.2013.11.022
9. Akintoye SO, Boyce AM, Collins MT. Dental perspectives in fibrous dysplasia and McCune-Albright syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013;116(3):e149-e155. doi:10.1016/j.oooo.2013.05.023
10. Lee JS, FitzGibbon EJ, Chen YR, et al. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis. 2012;7 Suppl 1(Suppl 1):S2. doi:10.1186/1750-1172-7-S1-S2
11. Jha SK, Mendez MD. Cafe Au Lait Macules. [Updated 2023 Jul 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557492/ Accessed April 16, 2025.
12. McCune Albright Syndrome: Symptoms, causes, treatment & outlook. Cleveland Clinic. Last edited:12/14/2021. Available at: McCune Albright Syndrome: Symptoms, Causes, Treatment & Outlook. Accessed April 16, 2025.
13. Boyce AM, Casey RK, Ovejero Crespo D, et al. Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome. Orphanet J Rare Dis. 2019;14(1):90. Published 2019 Apr 29. doi:10.1186/s13023-019-1057-x
14. Hyperthyroidism (overactive thyroid). Mayo Clinic. Last edited: 11/30/2022. Available at: Hyperthyroidism – Symptoms and causes – Mayo Clinic. Accessed April 16, 2025.
15. Christoforidis A, Maniadaki I, Stanhope R. McCune-Albright syndrome: growth hormone and prolactin hypersecretion. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:623-625. doi:10.1515/jpem.2006.19.s2.623
16. Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99(6):1955-1969. doi:10.1210/jc.2013-3826Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99(6):1955-1969. doi:10.1210/jc.2013-3826
17. Riminucci M, Collins MT, Fedarko NS, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112(5):683-692. doi:10.1172/JCI18399
18. Leet AI, Chebli C, Kushner H, et al. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. 2004;19(4):571-577. doi:10.1359/JBMR.0301262
19. Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73(5):1411-1424. doi:10.1002/1097-0142(19940301)73:5<1411::aid-cncr2820730516>3.0.co;2-t
20. Gaujoux S, Salenave S, Ronot M, et al. Hepatobiliary and Pancreatic neoplasms in patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99(1):E97-E101. doi:10.1210/jc.2013-1823
21. Mahdi AJ, Connor P, Thakur I. McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. Br J Haematol. 2017;178(2):179. doi:10.1111/bjh.14690
22. Lung H, Hsiao EC, Wentworth KL. Advances in Models of Fibrous Dysplasia/McCune-Albright Syndrome. Front Endocrinol (Lausanne). 2020;24;10:925. https://pubmed.ncbi.nlm.nih.gov/32038487/
23. Lietman SA, Ding C, Levine MA. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am. 2005;87(11):2489-2494. doi:10.2106/JBJS.E.00160
24. Fantahun B, Desta S. Delayed Diagnosis of McCune-Albright Syndrome. Case Rep Genet. 2021;2021:2999349. Published 2021 Dec 10. doi:10.1155/2021/2999349
25. Estrada A, Boyce AM, Brillante BA, Guthrie LC, Gafni RI, Collins MT. Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. Eur J Endocrinol. 2016;175(5):477-483. doi:10.1530/EJE-16-0526
26. Sims EK, Garnett S, Guzman F, et al. Fulvestrant treatment of precocious puberty in girls with McCune-Albright syndrome. Int J Pediatr Endocrinol. 2012;2012(1):26. Published 2012 Sep 22. doi:10.1186/1687-9856-2012-26
27. de G Buff Passone C, Kuperman H, Cabral de Menezes-Filho H, Spassapan Oliveira Esteves L, Lana Obata Giroto R, Damiani D. Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up. Horm Res Paediatr. 2015;84(3):184-189. doi:10.1159/000435881
28. Javaid MK, Boyce A, Appelman-Dijkstra N, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium [published correction appears in Orphanet J Rare Dis. 2019 Nov 21;14(1):267. doi: 10.1186/s13023-019-1255-6.]. Orphanet J Rare Dis. 2019;14(1):139. Published 2019 Jun 13. doi:10.1186/s13023-019-1102-9
29. Mieszczak J, Eugster EA. Treatment of precocious puberty in McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007;4 Suppl 4(0 4):419-422.
30. Stephen MD, Zage PE, Waguespack SG. Gonadotropin-dependent precocious puberty: neoplastic causes and endocrine considerations. Int J Pediatr Endocrinol. 2011;2011(1):184502. doi:10.1155/2011/184502
31. Tessaris D, Corrias A, Matarazzo P, et al. Thyroid abnormalities in children and adolescents with McCune-Albright syndrome. Horm Res Paediatr. 2012;78(3):151-157. doi:10.1159/000342641
32. Palot Manzil FF, Kaur H. Radioactive Iodine Therapy for Thyroid Malignancies. [Updated 2024 Nov 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK580567/ Accessed April 16, 2025.
33. Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010;95:1508-1511.
34. Ackah SA, Imel EA. Approach to Hypophosphatemic Rickets. J Clin Endocrinol Metab. 2022;108(1):209-220. doi:10.1210/clinem/dgac488
35. Gladding A, Szymczuk V, Auble BA, Boyce AM. Burosumab treatment for fibrous dysplasia. Bone. 2021;150:116004. doi:10.1016/j.bone.2021.116004

• < Previous section
• Next section >

• < Previous section

Programs & Resources

• Assistance Programs
• Patient Organizations
• More Information

RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Learn more about Patient Assistance Programs >

• < Previous section