B4GALT7-relatert spondylodysplastic EDS
Engelsk navn: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Engelske synonym: B4GALT7-related spondylodysplastic EDS,EDS progeroid type 1,EDS with short stature and limb anomalies,spEDS-B4GALT7
Definisjon
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B4GALT7</i> 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.
Fra Orphanet
ORPHA: 75496
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q79.6
