Rare Disease Daily #1: 10q22.3q23.3 Microdeletion Syndrome

Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens, made up of over 7,000 varying rare disorder and disease patients that desperately need your resources and help, for the sake of their basic human rights and equality, as well as to encourage every listener to investigate whether or not they are rare. With that, let’s begin. Any language originally gendered will be neutralized to the best of my ability.

Orphanet describes 10q22.3q23.3 microdeletion syndrome as a rare partial autosomal monosomy (which is a group of disorders including things like Turner Syndrome), it’s characterized by a mild facial dysmorphism variably including macrocephaly/enlarged head, broad forehead, hypertelorism or hypotelorism (an increased distance between two body parts), deep-set eyes, upslanting or downslanting palpebral fissures (opening between eyelids), low-set ears, flat nasal bridge, smooth philtrum/space between nose and mouth, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

According to rarechromo.org, someone with the deletion is likely to have a 50 per cent risk of passing it on and a 50 percent chance of having a child, without the deletion. When a parent of a child with 10q22.3q23.3 microdeletion syndrome was asked what was special about their child, they told Rare Chromo “Her dancing is wonderful: she picks up a routine instantly. She is a joy to watch and really enjoys doing it which makes it even better. She is loving and thoughtful and very helpful. She has achieved far more than we believed she would when first diagnosed. Her progress may be slower but she has got there in the end. I think help, encouragement and support along the way have helped her immensely.”

There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. 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.

This was Rare Disease Daily #1, I’m yannick-robin. Thank you for your time.

Resources:

• Everylife Foundation for Rare Diseases

• Genetic Alliance

• Global Genes: Allies in Rare Disease

• National Organization for Rare Disorders and Diseases

• National Center for Advancing Translational Sciences

• RareSource