Orphanet: B4GALT7 related spondylodysplastic Ehlers Danlos syndrome

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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

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.


Classification level: Subtype of disorder
  • Synonym(s):
    • B4GALT7-related spondylodysplastic EDS
    • EDS progeroid type 1
    • EDS with short stature and limb anomalies
    • spEDS-B4GALT7
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q79.6
  • OMIM: 130070
  • UMLS: C1869122
  • MeSH: C536201
  • GARD: 9991
  • MedDRA: -

Detailed information

General public


Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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