B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Synonyms: B4GALT7-related spondylodysplastic EDS | EDS progeroid type 1 | EDS with short stature and limb anomalies | spEDS-B4GALT7

A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature variable degrees of muscle hypotonia joint hypermobility especially of the hands and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia round flat face proptosis and narrow mouth) hyperextensible skin that is soft thin translucent and doughy delayed motor and/or cognitive development characteristic radiographic findings (such as radio-ulnar synostosis radial head subluxation or dislocation metaphyseal flaring and osteopenia) and ocular abnormalities.

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Advocacy Organizations

The Ehlers-Danlos Society

The Ehlers-Danlos Society is a global community of individuals, caregivers, healthcare professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions. We are proudly working to provide global learning conferences, collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for the EDS and HSD population: Giving HOPE to all those whose lives are affected by EDS and HSD.

Zebra CARE Initiative

To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to organ transplants or catastrophic injuries or illnesses. For 38 years, Help Hope Live has been showing clients and families how to bring together a network of relatives, friends, and neighbors in fundraising efforts to help cover the cost of uncovered medical expenses. These efforts play a critical role in helping our clients recover and maintain their health and independence. Since 1983, we have helped thousands of people raise millions of dollars for Help Hope Live to pay a wide range of expenses, including out-of-pocket costs for: medications, durable medical equipment, home health care, wheelchair-accessibility modifications, physical therapy, innovative treatments, medical travel and temporary relocation, even emergency living assistance. Our program has also helped thousands pay it forward and assist others with their medical expenses. Annually, we help place medical care within reach of about 5,000 families across the nation.

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

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).

Inclusive Skating

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.