T-MINUS 279 DAYS UNTIL RARE DISEASE DAY
The National Center for Advancing Translational Sciences describes 17q23.1q23.2 microdeletion syndrome as a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. It has only ever been documented in isolated cases, meaning there was no inheritance component, and also has a neonatal/infant onset, so it starts early in life. Orphanet includes, “limb abnormalities include long, thin fingers and toes, and small kneecaps” in the symptom list.
The prevalence of this disease is less than one in one million. It has only ever been documented in seven patients, globally.
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.
This was Rare Disease Daily #15, 17q23.1q23.2 microdeletion syndrome.
I’m yannick-robin. Thank you for your time.