Spondylodysplastic Ehlers-Danlos syndrome
Synonyms: Spondylodysplastic EDS | spEDS
A rare connective tissue disorder for which three subtypes exist either related to the gene B4GALT7 B3GALT6 or SLC39A13 and for which the clinically overlapping characteristics include short stature (progressive in childhood) small joint hypermobility skin hyperextensibility with soft doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset) skeletal anomalies and more variably osteopenia delayed motor development and bowing of the limbs. Gene-specific features with variable presentation are additionally observed in each subtype.
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 April 2024
Newly diagnosed with
Spondylodysplastic Ehlers-Danlos syndrome?
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Advocacy Organizations
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Pathways To Trust
To elevate the patient's voice to increase access to care and eliminate bias by bringing stakeholders together.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.