PRISMS Professional Advisory Board has created a set of Medical Management Guidelines and associated Checklist for Smith-Magenis Syndrome to best inform families and the physicians who serve them on evaluations to be conducted following initial SMS diagnosis, treatment of manifestations, and ongoing surveillance of the syndrome.
Variability among individuals and developmental changes are important to recognize. These guidelines were developed and approved by the PRISMS Professional Advisory Board. First published as part of the in-depth review of SMS that appears in GeneReviews (last updated September 2019), these guidelines were updated and approved by the PRISMS Professional Advisory Board in January 2018. The terminology used here that is USA-focused may be adapted, as appropriate, for use in other countries.
Download the Medical Management Guidelines and Checklist (PDF files) by clicking on the buttons below.
Birt-Hogg-Dubé Syndrome (BHD) is an adult-onset medical condition characterized by symptoms involving the skin, lungs, and kidneys. It is a rare genetic disorder caused by changes in a single gene called folliculin (FLCN). FLCN happens to be located within the 17p11.2 chromosomal region that is deleted in most people with SMS. Although most adults with SMS do not develop BHD, it is important for families and professionals to be aware of the connection between these two separate disorders.
In addition to what is in our Medical Management Guidelines, our Professional Advisory Board has put together a short guide on what we currently know about BHD.
Constipation is a common concern reported by caregivers of individuals with special health care needs, such as Smith-Magenis Syndrome (SMS). Smith and colleagues identified constipation as a frequent medical symptom observed among 53% of study participants.
The rate of constipation in SMS is higher than median rates found in neuro-typical children (up to 30% worldwide), adults (up to 16%), and adults older than 60 years (33%). The frequency of constipation among individuals with intellectual disability (ID) varies depending on how the studies were conducted, with most in the range of 33% to 50%.
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