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GTR Home > Conditions/Phenotypes > Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Synonyms
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; TRABOULSI SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin, ASPH
    Summary: aspartate beta-hydroxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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