Disability Awareness Hub: Understanding Turner Syndrome: A Rare but Important Condition
Understanding Turner Syndrome
Turner Syndrome (TS) is a genetic condition that affects only females and occurs when one of the X chromosomes is missing or partially missing. This chromosomal difference impacts development and can lead to a range of health challenges. While TS is relatively rare—affecting about 1 in every 2,000 to 2,500 female births—it is one of the most common genetic disorders in girls. [my.clevela...clinic.org], [mayoclinic.org]
What Causes Turner Syndrome?
Turner Syndrome is not inherited in most cases; it happens randomly during cell division. Females typically have two X chromosomes, but in TS, one is absent or altered. This change can occur in all cells (classic TS) or only some (mosaic TS). [medicalnewstoday.com]
Signs and Symptoms
The features of TS vary widely. Some signs may appear before birth, such as fluid buildup around the neck detected on ultrasound. At birth or early childhood, common indicators include a short, broad neck, low-set ears, swelling of hands and feet, and a broad chest with widely spaced nipples. As girls grow, short stature and delayed puberty become more noticeable.
Most individuals with TS experience ovarian insufficiency, meaning the ovaries do not function properly, leading to infertility.
Other health concerns can include heart defects, kidney abnormalities, hearing issues, and thyroid problems. Intelligence is usually normal, but some may face learning difficulties, particularly with spatial reasoning and math. [my.clevela...clinic.org], [mayoclinic.org], [rarediseases.org]
What can providers and coordinators do?
- Educate your teams: Ensure staff understand HD and how it affects behaviour and communication.
- Engage behaviour practitioners early: Don’t wait for a crisis—PBS is most effective when it’s proactive.
- Support families: HD is hereditary and emotionally complex. Families often need guidance, reassurance, and connection to resources.
- Plan for progression: Build flexible support plans that can adapt as the person’s needs change over time.
Raising awareness about Huntington’s disease is more than a clinical responsibility—it’s a human one. With the right knowledge and approach, we can ensure that people with HD are not defined by their diagnosis, but supported to live with dignity, purpose, and care.
If you're concerned about someone you know or you would like to learn more, reach out to learn how we can help.
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