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First branchial cleft anomaly

Disease definition

A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.

ORPHA:141013

Classification level: Disorder
  • Synonym(s):
    • First branchial cleft cyst
    • First branchial cleft fistula
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q18.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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