x

Search for a rare disease

* (*) mandatory field

Other search option(s)

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

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

Disease definition

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.

ORPHA:139450

  • Synonym(s):
    • Balikova-Vermeesch syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q15.8
  • OMIM: 611863
  • UMLS: C2678482
  • MeSH: -
  • GARD: 10300
  • MedDRA: -

Summary

Epidemiology

So far, it has been described in only one family.

Etiology

The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder.

Genetic counseling

Transmission is autosomal dominant.

- Last update: May 2008

Additional information

Further information on this disease

Health care 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.