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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

ORPHA:75496

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

Detailed information

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