B3GALT6-relatert spondylodysplastic EDS
Engelsk navn: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Engelske synonym: B3GALT6-related spEDS,B3GALT6-related spondylodysplastic EDS,Beta3GalT6-deficient EDS,Ehlers-Danlos syndrome progeroid type 2,spEDS-B3GALT6
Definisjon
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B3GALT6</i> 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.
Fra Orphanet
ORPHA: 536467
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q79.6
