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Proboscis lateralis

Disease definition

Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).

ORPHA:141099

Classification level: Disorder
  • Synonym(s):
    • Congenital tubular nose
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal, Antenatal
  • ICD-10: Q30.8
  • ICD-11: LA70.Y
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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.