B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

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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.

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 2024

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Advocacy Organizations

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.

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.

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.

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

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