Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
MAS; Albright syndrome; Albright's disease;
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Skeletal symptoms may include:
- Fibrous dysplasia Normal bone is replaced by softer, fibrous tissue. This may lead to limping, pain, fractures, progressive
scoliosis, uneven growth, facial deformity, and loss of mobility.
Endocrine symptoms may include:
- Early puberty (also called precocious puberty) Girls with MAS can have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before breast enlargement and pubic hair growth begin. Early-onset menstruation is thought to be due to excess
estrogenthat may be produced by ovarian cysts. Precocious puberty in boys with MAS occurs less frequently and later in life when compared to girls, and presents with penile growth and testesenlargement.
- Thyroid disease The thyroid gland may become enlarged (called a goiter) or develop masses called nodules. About half of people with MAS have hyperthyroidism.
- Increased production of growth hormone The pituitary gland may produce too much growth hormone. This can result in acromegaly.
- Cushing’s syndrome - Rarely, people with MAS produce too much cortisol in the adrenal glands. This can cause weight gain in the face and upper body, slowed growth, fragile skin, fatigue, and other health problems.
- Testicular abnormalities in males - Testicular abnormalities are seen in the majority of males with MAS (~85%), and typically manifest as abnormally large testes (macro-orchidism).
- Phosphate wasting Increased production of the hormone FGF23 can result in renal tubulopathy, impairing the kidneys' ability to function properly.
Skin symptoms may include:
- Cafe-au-lait spots People with MAS usually have light brown patches of skin. These spots often appear on one side of the body and may be present from birth.
Less common features of MAS may include hepatitis; gastroesophageal reflux or gastrointestinal polyps; pancreatic complications such as pancreatitis; intramuscular myxomas (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal endocrine physiology||0031072|
|Large cafe-au-lait macules with irregular margins||0005605|
Early onset of puberty
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of facial skeleton||
Anomaly of facial skeleton
|Abnormality of femur morphology||
Abnormality of the thighbone
|Abnormality of the skull base||0002693|
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation
[ more ]
[ more ]
|Increased serum testosterone level||0030088|
|Monostotic fibrous dysplasia||0010736|
|Renal tubular dysfunction||
Abnormal function of filtrating structures in kidney
|5%-29% of people have these symptoms|
|Benign gastrointestinal tract
Non-cancerous GI tumors
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
Asymmetry of face
[ more ]
Acid reflux disease
[ more ]
Enlarged thyroid gland in neck
|Growth hormone excess||0000845|
[ more ]
|Hyperplasia of the Leydig
|Inappropriate sexual behavior||0008768|
|Increased circulating prolactin concentration||0000870|
Blockage of nose
Obstruction of nose
[ more ]
Softening of the bones
Pins and needles feeling
[ more ]
|Polyostotic fibrous dysplasia||0010735|
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|Renal phosphate wasting||0000117|
|1%-4% of people have these symptoms|
|Aneurysmal bone cyst||0012063|
|Bone marrow hypocellularity||
Bone marrow failure
Slowed or blocked flow of bile from liver
High urine phosphate levels
Low blood phosphate level
Low blood cell count
Loss of vision
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Excessive bone growth of the skull and face
Elevated blood parathyroid hormone level
|Increased circulating cortisol level||0003118|
Precocious puberty in McCune-Albright syndrome is gonadotropin-independent. This means that it is not caused by early release of gonadotropins (luteinizing hormone and follicle-stimulating hormone), but, instead, the cause is the early secretion of high levels of sex hormones (male androgens and female estrogens). Precocious puberty caused by this condition is much more common in girls than in boys, resulting from an excess of
Other endocrine problems that may also occur in people with McCune-Albright syndrome are hyperthyroidism, acromegaly and Cushing syndrome. The hyperthyroidism in the MAS is caused by an enlarged thyroid gland (goiter) or by thyroid masses called nodules. Acromegaly results from an excess of growth hormone produced by the pituitary gland (a structure at the base of the brain that makes several hormones). Cushing syndrome results from an excess of the hormone cortisol produced by the adrenal glands.
The diagnosis of McCune-Albright
MAS may be suspected at birth based upon identifying the characteristic cafe-au-lait spots. However, in many cases, it may not be suspected until late infancy or childhood when precocious (very early) puberty develops or when bone deformities become obvious.
In cases when only one bone has fibrous dysplasia and there are not other symptoms
Management of McCune-Albright
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.