Endocrine symptoms may include:
Skin symptoms may include:
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|
Low blood phosphate level
|Multiple cafe-au-lait spots||0007565|
Early onset of puberty
Early puberty[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Reduced bone mineral density||0004349|
|5%-29% of people have these symptoms|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Tooth decay[ more ]
|Elevated hepatic transaminase||
High liver enzymes
Elevated blood parathyroid hormone level
|Increased circulating cortisol level||0003118|
Round back[ more ]
Increased size of skull
Large head circumference[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Tumours of the breast[ more ]
|Neoplasm of the thyroid gland||0100031|
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth[ more ]
|Prolonged bleeding time||0003010|
Increased body height
|Percent of people who have these symptoms is not available through HPO|
Excessive bone growth of the skull and face
Asymmetry of face
Unsymmetrical face[ more ]
|Growth hormone excess||0000845|
Hearing defect[ more ]
|Large cafe-au-lait macules with irregular margins||0005605|
|Polyostotic fibrous dysplasia||0010735|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My daughter who is 3 months old has a large cafe-au-lait lesion that has darkened since birth. It is very classical for this syndome (midline, coast of Maine, covers entire right buttocks and back of leg). We were referred to a pediatric dermatologist and she is being worked up for McCune Albright. The next step is a full series of x-rays. They are not sure taking them this early would show any bony changes. Do you have any recommendations of steps we can take now to determine if she does indeed have this syndrome and to what degree she is affected? See answer
What is the life expectancy? See answer
I was diagnosed with McCune Albright when I was 16. I was wondering the risks of pregnancy with McCune Albright? I am 20 now and already had 1 miscarriage. I want to know if this is possibly from my syndrome? See answer
Is McCune-Albright syndrome picked up by amniocentesis? I had an amniocentesis with my daughter and nobody told me she had it. See answer
Can you please provide some general information about McCune-Albright syndrome? See answer