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De Barsy syndrome

Disease definition

De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.

ORPHA:2962

  • Synonym(s):
    • Cutis laxa-corneal clouding-intellectual disability syndrome
    • Progeroid syndrome, De Barsy type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 219150  614438
  • UMLS: C0268354
  • MeSH: C535990
  • GARD: 49
  • MedDRA: -

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