x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Branchio-oculo-facial syndrome

Disease definition

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

ORPHA:1297

  • Synonym(s):
    • BOFS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or No data available 
  • Age of onset: Neonatal
  • ICD-10: Q18.8
  • OMIM: 113620
  • UMLS: C0376524
  • MeSH: -
  • GARD: 3212
  • MedDRA: -

Detailed information

Article for general public

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.