I love somebody with Smith-Magenis Syndrome.

17/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣 - and today is 🌟 Smith-Magenis Syndrome Awareness Day – 17th November 🌟

Did you know?

People with SMS are known for their huge hearts — offering the warmest hugs, seeking closeness, and forming deep emotional bonds with the people they love most.

Today, on SMS Awareness Day, we celebrate the incredible warmth, affection, and connection that so many individuals with SMS naturally bring into the world. Their ability to light up a room with a cuddle, a smile, or a moment of shared closeness is one of the most treasured strengths of the SMS community.

❤️ Whether they’re wrapping someone in a “big squeeze,” or reaching for a hand, these moments of affection remind us of the compassion and humanity at the heart of SMS.

✨ On this special day, let’s raise awareness, spread understanding, and honour the kindness, resilience, and love that individuals with SMS share so generously.

Together we spread awareness. Together we grow.

17/11/2025

🌟 Happy Smith-Magenis Syndrome Awareness Day!

📅 17th November

Today we celebrate the incredible SMS community — and the reason this date is so special.

Smith-Magenis Syndrome is most often caused by a deletion on chromosome 17p11.2, so 17/11 is the perfect day to honour the strength, individuality and spirit of those living with SMS.

💛💙 Today we celebrate their strengths…

✨ Warm, sociable and affectionate
✨ Naturally funny and expressive
✨ Bring joy and laughter to the people around them
✨ Thrive with clear routines and expectations
✨ Determined and resilient, even through challenges
✨ Excellent long-term memory
✨ Intelligent in unique and sometimes unexpected ways
✨ Remember people, places and experiences in beautiful detail
✨ Offer creative ideas and unique insights that surprise and inspire

Every person with SMS brings something bright, meaningful and original into the world.
Today, we honour their strengths, their stories, and their place in our community.
nl .italia

12/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?
Many individuals with Smith-Magenis Syndrome (SMS) have short stature, especially during childhood. However, some may experience growth spurts later and reach an average height range in adulthood.

Every person with SMS is unique — growth patterns, just like abilities and strengths, can vary widely.

💜 Let’s keep raising awareness, celebrating individuality, and supporting every milestone along the way.

11/11/2025

Remembering all those we’ve lost within the SMS community 💜

This photo shows the international SMS awareness ribbon, the usual colours are purple and turquoise. this photo was edited as a mark of respect for all the people within our SMS community that have sadly passed away.

When a member of our wonderful community passes away it hits so hard.

Today we are remembering all the angels loved and forever missed.

11/11/2025

10/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

🦴 Scoliosis (a curved spine) is more common in individuals with Smith-Magenis Syndrome (SMS) than in the general population.

The likelihood of developing scoliosis often increases with age, so regular monitoring of spine health is important throughout childhood and adolescence.

By raising awareness, we help families and professionals better understand the lifelong needs associated with SMS 💜

09/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

Many individuals with Smith-Magenis Syndrome (SMS) share some distinctive facial features — often described as a broad, square face, deep-set eyes, a prominent jaw, and an upturned nose.

These features can become more noticeable with age and may help doctors recognise the condition, but every person with SMS is unique — and their beauty shines in their own way 💜

Let’s keep raising awareness, building understanding, and celebrating individuality.

08/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

Children with SMS often experience developmental delays, including delayed crawling, walking and speech. 💜

Fine motor delays can affect hand–eye coordination, grasping, or using utensils.

Self-care skills (like dressing, feeding, and toileting) may take longer to develop so daily living routines often need extra support and consistency.

Every milestone may take a little longer, but each one is a huge celebration for families living with SMS. These children and adults show incredible determination and strength every single day. 🌟

Let’s continue raising awareness, sharing understanding, and celebrating progress—no matter how long it takes. 💪💜

07/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

🧬 Babies with Smith-Magenis Syndrome (SMS) often have low muscle tone (hypotonia), feeding difficulties, and may sleep well in the early days — though nighttime sleep can be very disrupted later on.

As there are two main genetic causes of SMS babies can present differently:

🔹 17p11.2 deletion:
Babies with this deletion are missing a small piece of chromosome 17, which includes the RAI1 gene and other nearby genes.
➡️ Because multiple genes are affected, these children may experience a broader range of medical or developmental challenges.

🔹 RAI1 mutation:
➡️ These babies may have fewer medical complications in the early days but may develop more specific behavioural, sleep and sensory profiles.

No matter the cause, every baby with SMS is different and every baby will develop in a different way.

Let’s keep raising awareness and supporting families seeking answers and understanding. 💜

06/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

🧬 Diagnosis for SMS is confirmed through genetic testing, usually with Chromosomal Microarray (CMA) for the deletion or via the Whole Genome Sequencing (WGS/WGS) for the RAI1 mutation.

These tests have transformed rare disease diagnosis — but they’re not perfect yet.

Even today, some genetic changes can be hard to detect, and sometimes results come back as “uncertain”, meaning science hasn’t yet learned how to interpret them.

That’s why families may go through:
🔍 multiple tests
⏳ long waits for answers
🔁 re-analysis as knowledge grows

Genetics is advancing fast, and every new discovery helps more families get the clarity they deserve. 💜

For SMS, it’s important that testing looks for both:
• ✅ the 17p11.2 deletion (most cases)
• ✅ changes in the RAI1 gene (a smaller number of cases)

If you’re on a diagnostic journey — you are not alone. Awareness, research, and advocacy continue to push understanding forward every day.

Let’s keep raising awareness and supporting families seeking answers.

💜

05/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

Most SMS cases happen spontaneously (de novo), but rare parental diagnoses do occur. Peer reviewed studies show parents have been found to either

🟣 carry pathogenic RAI1 changes without being effected themselves, or
🟣 have SMS but that has been discovered after their child was diagnosed.

Because of low-level parental mosaicism and rare inherited RAI1 variants, clinicians recommend parental testing after a child’s diagnosis to clarify recurrence risk and provide appropriate support. 💜
Let’s keep raising awareness, understanding and support 💜

💜