Spondylodysplastic Ehlers-Danlos syndrome

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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 October 2023.

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