Bosma arhinia microphthalmia syndrome (BAM syndrome)

This is a lecture about the genetic condition Bosma arhinia microphthalmia syndrome (BAM syndrome), designed for trainees and medical professionals.

Lecture by Kimberly Eberenz. Edited by Philip M. Boone, MD, PhD.

Acknowledgement: We thank Natalie Shaw, M.D., MMSc., for helpful comments about the script. Dr. Shaw is a pediatric endocrinologist and clinical researcher. Her lab is investigating how changes in the SMCHD1 gene lead to BAM syndrome by studying patients and by using cellular models. Patients and families who are interested in participating in research can contact her at [email protected].

Video of an individual with arhinia:    • The Girl Born Without a Nose (BAM Syn...  

References:

Rarediseases.org
https://rarediseases.org/rare-disease...

OMIM
https://www.omim.org/entry/603457

One paper where the gene was discovered
https://www.ncbi.nlm.nih.gov/pmc/arti...

For more information on clinical trials, visit
http://www.clinicaltrials.gov

Disclaimer: This video is not intended to guide medical decision making by physicians, patients, or families.