Organizations and useful links

The IDefine it is a non-profit organization focused on Kleefstra Syndrome. It was created to connect families, raise awareness, and accelerate research with the goal of better understanding the condition and developing future targeted treatments.

Today, IDefine supports a wide range of activities, from the creation of cellular models and biobanks to natural history studies, scientific collaborations, family and researcher conferences, and programs exploring new therapeutic approaches.

For families, it is also an important source of information on new studies, research programs, conferences, and opportunities to participate in research.

Official IDefine website

The IDefine Europe – Foundation for the Advanced Treatment of Rare Genetic Diseases It is a non-governmental organization based in Slovenia. It engages in research and advocacy for individuals with rare genetic disorders, with an initial and particularly important field of activity being Kleefstra Syndrome.

Its activities include data science and artificial intelligence, research, advocacy, education, knowledge transfer, and connecting families, researchers, and clinicians. IDefine Europe works closely with IDefine in the US and participates in European networks for rare neurodevelopmental disorders.

His website also includes information on European Kleefstra communities, research initiatives, and data collection programs.

Official Website IDefine Europe

The Kleefstra Syndrome Europe Alliance It acts as a European coordination hub for national organizations, communities, and contact points for Kleefstra syndrome.

Its goal is to facilitate communication between European families, the exchange of reliable information, and cooperation among national communities. The European network includes communities and contact points from many countries, including Greece.

For a family looking to connect with other families in Europe, this is one of the most useful starting points.

Kleefstra Syndrome Europe Alliance and European communities

Η Alliance of Rare Diseases Greece (ARDG) It is a non-profit association with a nationwide scope, made up of associations, clubs, and organizations of patients with rare diseases. Today it represents dozens of member organizations and constitutes one of the main advocacy bodies for the rare disease community in Greece.

Its actions focus on advocating for patients' rights, equal access to diagnosis, care, and treatments, the development of registries and reference centers, community information and education, as well as participation in the planning of health policies for rare diseases. H.E.S.A.E. also participates in national committees and working groups and represents the Greek community in European and international organizations, including EURORDIS and Rare Diseases International.

For families, it can serve as a useful source of information regarding rights and social benefits, access to health services, community actions, and issues concerning people living with rare diseases in Greece as a whole. The Alliance has published, among other things, an updated Guide to Rights and Social Benefits for individuals living with rare diseases.

Rare Diseases Greece – R.D.G.

Η Panhellenic Alliance of Rare Diseases (PA-RD) founded in 2003 and operating as an umbrella organization for individuals and associations representing rare diseases in Greece.

Its activities include informing, raising awareness, gathering information, supporting individuals with rare diseases, and promoting research and cooperation. It is also a member of the European organization EURORDIS.

It can be particularly useful for families needing information on the Greek rare disease environment, connection with other organizations, and representation of issues concerning rare patients.

Panhellenic Association of Rare Diseases - PESPA

Η «95, Greek Alliance for Rare Patients, is a non-profit association founded in 2019 by patients and parents of children with rare diseases.

Its key axes of action include information and awareness raising, the education and empowerment of patients and healthcare professionals, early diagnosis, equal access to health services and treatments, and the promotion of research and clinical trials.

For families with Kleefstra Syndrome, it can serve as a useful Greek point of reference for issues concerning life with a rare condition overall.

«95» - Greek Alliance for Rare Patients

The ERN ITHACA is the European Reference Network for rare congenital syndromes, intellectual disability and other neurodevelopmental disorders.

It is one of the official European Reference Networks and connects specialized centers, clinicians, and researchers from different European countries. Its activities include the development of clinical guidelines, education, registries, research, and the opportunity for experts to collaborate on complex cases.

Kleefstra syndrome is within the scope of interest of ERN ITHACA, and the development of the first international evidence-based clinical guidelines for KLEFS1 took place within this broader European and international framework.

For healthcare professionals: ERN ITHACA is particularly useful for guidelines, specialized centers, educational material, and scientific collaboration.

The network does not function as a simple clinic to which a patient self-refers. Access to a specialized opinion is usually achieved through the participating professionals and health centers.

ERN ITHACA

Η EURORDIS – Rare Diseases Europe It is a large European, non-profit alliance of patient organizations with rare diseases.

It connects more than 1,000 organizations from dozens of countries and works to empower the patient voice, improve policies for rare diseases, research, access to treatments, and cooperation at the European level.

It is not an organization specifically for Kleefstra, but it is one of the most important European bodies for the broader rare diseases ecosystem.

EURORDIS – Rare Diseases Europe

The Orphanet it is an international reference source for rare diseases and has a separate entry for Kleefstra Syndrome, ORPHA:261494.

The page gathers information on the condition, genetic data, clinical characteristics, diagnostic tests, centers of expertise, patient organizations, registries, research programs, and clinical guidelines.

It is particularly useful for both families and healthcare professionals who need an organized international resource for rare diseases.

Orphanet – Kleefstra syndrome ORPHA:261494

The GeneReviews of the National Center for Biotechnology Information is one of the key scientific reviews for Kleefstra Syndrome.

It includes information on diagnosis, EHMT1, 9q34.3 deletions, clinical features, genetic counseling, and the management of the condition. The current version was revised in 2023 and authored by Tjitske Kleefstra and Nicole de Leeuw.

For the most recent monitoring recommendations, it must be used in conjunction with the 2026 International Clinical Guidelines.

GeneReviews – Kleefstra Syndrome

Ο Kleefstra World Map created to make the international community more visible and connect families from different countries.

Families can register an individual with Kleefstra on the map, contributing to a better picture of the geographical distribution and size of the known community.

Important clarification: The number of registered individuals on the map does not constitute an official estimate of the true prevalence of Kleefstra Syndrome. Not all diagnosed individuals worldwide are registered, and the map does not replace a clinical registry or an epidemiological study.

Kleefstra Syndrome Worldwide Map

The RARE-X, a Global Genes program, is an international data collection and sharing platform for rare diseases.

Its goal is to enable patients and caregivers to contribute data that can, under appropriate access procedures, be used by researchers, clinicians, and therapeutics developers.

RARE-X is included in the data collection platforms featured by the international Kleefstra community.

RARE-X

The GenIDA It is an international platform for collecting information reported by families and caregivers of individuals with genetic forms of intellectual disability, autism, and epilepsy.

The Kleefstra Syndrome community has participated in data collection through GenIDA, and this data has been used in research analyses to better understand the condition.

The availability and technical operation of the registries may change over time, so prior to any registration it is recommended to check the current status of the platform.

GenIDA