MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
Newly diagnosed with
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Aicardi-Goutieres Syndrome Advocacy Association
AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Our Odyssey Inc.
Connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
Jamal’s Helping Hands
Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.
Patient Advocate Foundation
Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.
Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Life Branches NFP Inc
Provide emotional wellness mental health to rare disease patients
Rare Disorders Kenya
Provide a strong common voice to advocate for a rare disease health policy and a better healthcare system that works for those with rare diseases
For a list of clinical trials in this disease area, please click here.