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GTR Home > Conditions/Phenotypes > Microcornea-myopic chorioretinal atrophy

Microcornea-myopic chorioretinal atrophy

Synonyms
Microcornea, myopic chorioretinal atrophy, and telecanthus
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment. [from ORDO]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADAMTS21, KNO2, MMCAT, ADAMTS18
    Summary: ADAM metallopeptidase with thrombospondin type 1 motif 18

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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