Branchio-oculo-facial syndrome (Q94130): Difference between revisions
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Síndrome brânquio-óculo-facial (BOFS) é uma síndrome genética caracterizada por baixo peso ao nascer e retardo de crescimento, fendas branquiais bilaterais que podem ser hemangiomatosas, às vezes com lesões cutâneas lineares atrás das orelhas (lesões "semelhantes a queimaduras"), estrabismo congênito, ductos nasolacrimais obstruídos, uma ponte nasal larga com uma ponta nasal achatada, um lábio superior protuberante com um filtro anormalmente largo e proeminente e boca cheia. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1471530044 / rank | |||||||||||||||
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CID11:ID_1471530044 | |||||||||||||||
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dki-india-ID_1471530044 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:14, 16 August 2026
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 |
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| default for all languages | ID_1471530044 |
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| 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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