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News
Get ready for Rare Chromo Day 2025
Rare Chromo Day is taking place on Thursday 19th June 2025. Learn more about the launch of our Little Red Book and find out how to get involved.
Read moreUnique Guides using AI
We are calling for clinicians to lead development of five to ten new Unique Information Guides for rare genetic neurodevelopmental disorders using a customised AI solution developed as part of a collaborative project between Unique, Manchester Rare Conditions Centre, Shorthills AI and NW GMSA.
Read moreMay Webinar: Thinking differently about behaviour
Join us on 21 May 2025 for a virtual workshop for families.
Read more![Today is Koolen-de Vries Syndrome Awareness Day.
This rare syndrome is caused by genetic changes in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17. Unique have a helpful guide on the condition to help answer questions like 'What should happen after diagnosis?', 'What is the difference between a gene change [mutation] or deletion? 'What are the most likely features of Koolen-de Vries syndrome?'
Find our guide via our the 'Disorder Guides - Unique' link in our bio or paste bit.ly/alluniqueguides into your search engine.
We have a number of stories from families affected by the rare condition in our Little Red Book, today we wanted to share Poppy's story, from page 115 of our little red book.
"Poppy was diagnosed at 4 weeks old with a rare genetic condition called Koolen-de Vries syndrome. Poppy, when born, had a very small birth weight, hypotonia (low muscle tone) and feeding issues which required having an NG (nasogastric) tube placed. Poppy struggled to gain weight and kept struggling to breath at night. Poppy at 10 weeks old was also diagnosed with severe sleep apnoea and spent 4 weeks in a children’s hospital. This appointment saved Poppy’s life as she then was able to grow with having a CPAP ventilation machine to help her breathe at night.
Poppy is now 2 years old, she is non-verbal and is starting to learn to walk with foot splints. She has separation anxiety and struggles with her emotions but despite Poppy living with her disability she is the most happiest and loving little girl who shows so much love through her eyes."
Read all stories from our Little Red Book now 📕](https://rarechromo.org/cms/wp-content/plugins/instagram-feed/img/placeholder.png)
