Kleefstra Syndrome
In the realm of rare genetic disorders, Kleefstra Syndrome stands as a poignant example of the challenges faced by affected individuals and their families. Characterized by intellectual disability, developmental delays, and a range of physical and behavioral symptoms, this syndrome has long been a puzzle for medical professionals - FasterCapital
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Life with Maslynn
Life is hard….what can I say…our family struggles every day. Her siblings try to play and help where they can. Maslynn takes up so much time, patience, and energy I feel like my other two children don’t get the attention they deserve and need. Maslynn has made great progress but she has a long way to go. She is able to speak with limited language and words but gets her point across. She is mentally like a 2–3-year-old, so we constantly have to watch over her every move even though she is 10 years old. She has a lot of autistic behaviors as well, sensory, touch, noises, crowds, routines all affect her, and we never know what we are going to be dealing with behavioral-wise. She will self-harm…
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IDefine
IDefine is committed to identifying life-changing treatments & cures for those with Kleefstra syndrome (KS), a neurodevelopmental disorder caused by a loss of function in one copy of the gene EHMT1.
Articles of Interest
Cracking the code on Kleefstra syndrome: It takes a community
Paul Terry is a staunch advocate for people with rare diseases — but researchers were only able to put a name to his condition five years ago. It was an answer he and his family had long sought. When Paul was a baby, his parents saw that he wasn’t hitting all his milestones. Their pediatrician felt he might have developmental disabilities, and that there might be some genetic cause.
Gabby's Story: A Kleefstra Syndrome Documentary
The Khoury Family from Sydney, Australia shares their story with the help of Dr. Elma Palmer and others from Sydney Children's Hospital.
Kleefstra Syndrome
Kleefstra syndrome, caused by a deletion at 9q34.3 or pathogenic variants in EHMT1, is inherited in an autosomal dominant manner. Almost all cases reported to date have been de novo; rarely, recurrence in a family has been reported when a parent has a balanced translocation involving the 9q34.3 region or somatic mosaicism for an interstitial 9q34.3 deletion.
Overview of Kleefstra Syndrome (KS)
Currently, there is no drug or similar therapeutic treatment for KS patients. As a result, managing KS on a day-to-day basis involves various therapies (mostly commonly speech, physical, occupational and behavioural), assistance of a parent or caregiver, careful monitoring of symptoms and making lifestyle choices based on the patient’s needs. Well-known medications may also be used to treat specific features such as epilepsy or behavioural problems.
Transforming The Lives Of Individuals With Kleefstra Syndrome
In the realm of rare genetic disorders, Kleefstra Syndrome stands as a poignant example of the challenges faced by affected individuals and their families. Characterized by intellectual disability, developmental delays, and a range of physical and behavioral symptoms, this syndrome has long been a puzzle for medical professionals. However, recent strides in technology and innovation have begun to unlock new possibilities for those living with Kleefstra Syndrome, offering hope and tangible improvements to their quality of life.
Resources
IDefine Europe
The Kleefstra Syndrome Europe Alliance is a central coordination hub for Kleefstra syndrome in Europe. The hub brings together national Kleefstra patient organisations and groups from Europe. We work together to improve the lives of our children with Kleefstra syndrome (type 1, gene EHMT1) by providing contacts and information.
Kleefstra Syndrome UK
The Kleefstra syndrome community stretches rights across the world and is growing. Kleefstra Syndrome UK exists to offer support, education and awareness of this rare condition. Over 700 families currently benefit from our community support network.
Kleefstra Syndrome Worldwide Map
Welcome to Kleefstra Syndrome worldwide map. In the map below you can see the locations of KS individuals.
KleefstraSyndrome.com
Welcome to Greece's Kleefstra site...
Mazy’s Kleefstra Syndrome Foundation
We are a non-profit organization, helping educate others on Kleefstra Syndrome and helping others receive traditional and non-traditional medical care and therapies.
Kleefstra Syndrome France
Pour les parents d'enfants/adultes atteints par le syndrome de kleefstra et souhaitant adhérer à l'association: remplissez le formulaire suivant.
Kleefstra syndrome Italy
On 7 October 2019, two mothers formed the Italian Kleefstra Syndrome Association, which aims to promote: • information and awareness of Kleefstra syndrome; • scientific research for the study of Kleefstra syndrome; • the protection of the civil rights of people affected by Kleefstra syndrome and their families; • social assistance and socio-health assistance in favor of the same; • proposals for solutions for future prospects and for the so-called "After us".
RareChromo.org
Dr Kleefstra’s interest in the syndrome arose in 1999 when she met in clinic a girl with a then unexplained intellectual disability and found that she was carrying a so-called translocation between chromosomes X and 9. She was interested in the break points of this translocation because she and her colleagues hypothesised that genes at the break points might be disrupted.
