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Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
rareFacial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
- Identifiers
- MONDO:0011106 OMIM:601552Orphanet:412022
- Causal genes
- ASPH
- Part of
- Hereditary diseaseLens disorder
- Also known as
- facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs · facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome · FDLAB · FDLAB syndrome · Traboulsi syndrome
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