MAS is a genetic disease that affects the bones, skin, and the production of certain hormones, including those that affect growth and the onset of puberty. NICHD supports research to understand the genetic causes of MAS, how it affects the body, and treatments for MAS and related conditions.
General Information
About MAS
MAS is a genetic disorder that affects the skin, bones, and the production of certain hormones.
What are the symptoms of MAS?
MAS symptoms can vary from mild to severe, and may include light-brown birthmarks, fibrous tissue in the bones, and early onset of puberty.
How many people are affected/at risk by MAS?
MAS is rare, affecting between 1 in every 100,000 to 1 million live births worldwide.
What causes MAS?
MAS is a genetic disorder, which means that a change, also called a mutation, in a gene causes it.
How do healthcare providers diagnose MAS?
A person is diagnosed with MAS if he or she has a combination of symptoms, a few of which include light-brown birthmarks, bone irregularities, and early onset of puberty.
What are the treatments for MAS?
Treatment for MAS depends on the extent and the severity of a person’s symptoms. For example, healthcare providers may recommend medication for endocrine problems, or surgery for bone issues.
Research
NICHD Research Information
NICHD conducts and supports research on MAS and on many disorders associated with MAS.
Find a Study
Find a Study on MAS
NICHD conducts and supports a variety of clinical research projects related to MAS.
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