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Microtia - eye coloboma - imperforation of the nasolacrimal duct

Orpha number ORPHA139450
Synonym(s) Balikova-Vermeesch syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • Q15.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. So far, it has been described in only one family. Transmission is autosomal dominant and 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.


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