Orphanet: B4GALT7 related spondylodysplastic Ehlers Danlos syndrome
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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like radio-ulnar synostosis, metaphyseal flaring, osteopenia, radial head subluxation or dislocation, and short clavicles with broad medial ends), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, generalized joint hypermobility, characteristic craniofacial features (like triangular or flat face, wide‐spaced eyes, proptosis, narrow mouth, low‐set ears, sparse scalp hair, abnormal dentition, and wide forehead), and ocular abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.

ORPHA:75496

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: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 130070  615349
  • UMLS: C1869122
  • MeSH: C536201
  • GARD: 9991
  • MedDRA: -

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