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LOC syndrome

Disease definition

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.

ORPHA:2407

  • Synonym(s):
    • LOGIC syndrome
    • Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
    • Laryngo-onycho-cutaneous syndrome
    • Shabbir syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 245660
  • UMLS: C1328355
  • MeSH: -
  • GARD: 368
  • MedDRA: -

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