Synonyms: B3GALT6-related spEDS | B3GALT6-related spondylodysplastic EDS | Beta3GalT6-deficient EDS | Ehlers-Danlos syndrome progeroid type 2 | spEDS-B3GALT6
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature variable degrees of muscle hypotonia joint hypermobility especially of the hands bowing of limbs and congenital or early onset progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead sparse hair mid-face hypoplasia blue sclerae proptosis and abnormal dentition) hyperextensible soft thin translucent and doughy skin delayed motor and/or cognitive development characteristic radiographic findings (spondyloepimetaphyseal dysplasia platyspondyly anterior beak of vertebral body short ilia elbow malalignment and generalized osteoporosis) joint contractures and ascending aortic aneurysm.
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 September 2026
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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome?
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Advocacy Organizations
CDG CARE
CDG CARE (Community Alliance and Resource Exchange) is a 501(c)(3) nonprofit public charity dedicated to representing all Congenital Disorders of Glycosylation (CDG) — a group of rare, inherited metabolic disorders that disrupt a complex enzymatic process essential to nearly every system in the body. Founded by parents seeking information, connection, and hope, CDG CARE has grown into a global organization serving patients, families, clinicians, and researchers across more than 200 known CDG types. Our mission is to raise awareness, support families, and fund research to improve the diagnosis, care, and treatment of CDGs. We pursue this mission through programs that meet families wherever they are in their journey, from the moment of diagnosis through the search for therapies. At every level of our work, CDG CARE is driven by a simple belief: that no family facing a CDG diagnosis should feel alone, and that together... families, scientists, clinicians, and advocates, we can move research, therapies, and hope forward.
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Ehlers-Danlos Syndromes New Zealand
Our Mission is to improve the wellbeing of those with Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders in Aotearoa New Zealand by raising awareness, improving knowledge by health professionals and providing support to patients.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Myhre Syndrome Foundation
We aim to safely bring the best possible treatments to the Myhre syndrome community. We’re building tools to test a wide range of therapies—from existing drugs to DNA repair.
Pathways To Trust
To elevate the patient's voice to increase access to care and eliminate bias by bringing stakeholders together.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
The Ehlers-Danlos Society
The Ehlers-Danlos Society is dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). We support the development of effective and equitable EDS and HSD therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.