Branchio-oculo-facial syndrome (Q94130)
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Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1471530044 |
||
| English | Branchio-oculo-facial syndrome |
Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. |
Statements
CID11:ID_1471530044
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dki-india-ID_1471530044
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Concluído
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15 August 2026
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