Opitz BBB/G syndrome (Q55328): Difference between revisions
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A síndrome de Opitz BBB/G é um transtorno genético caracterizado pela associação de anomalias craniofaciais (incluindo hipertelorismo com telecanto, ponte nasal larga e, às vezes, fenda palatina/labial), anormalidades geniturinárias (com hipospádia em homens afetados), malformações da laringe, faringe e/ou traqueia (causando dificuldades para engolir e respirar) e, menos frequentemente, outras anomalias da linha média ventral. A inteligência pode ser normal, mas pode ocorrer déficit intelectual leve. | |||
| description / en | description / en | ||
Opitz BBB/G syndrome is a genetic disorder characterised by the association of craniofacial anomalies (including hypertelorism with telecanthus, a wide nasal bridge, and sometimes cleft palate/ lip) genito-urinal abnormalities (with hypospadias in affected males) malformations of larynx, pharynx and/or trachea (causing difficulties to swallow and breathe) and, less frequently, other anomalies of the ventral midline. Intelligence may be normal but mild intellectual deficit may occur | |||
Revision as of 02:58, 14 August 2026
Opitz BBB/G syndrome is a genetic disorder characterised by the association of craniofacial anomalies (including hypertelorism with telecanthus, a wide nasal bridge, and sometimes cleft palate/ lip) genito-urinal abnormalities (with hypospadias in affected males) malformations of larynx, pharynx and/or trachea (causing difficulties to swallow and breathe) and, less frequently, other anomalies of the ventral midline. Intelligence may be normal but mild intellectual deficit may occur
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1223495505 |
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| English | Opitz BBB/G syndrome |
Opitz BBB/G syndrome is a genetic disorder characterised by the association of craniofacial anomalies (including hypertelorism with telecanthus, a wide nasal bridge, and sometimes cleft palate/ lip) genito-urinal abnormalities (with hypospadias in affected males) malformations of larynx, pharynx and/or trachea (causing difficulties to swallow and breathe) and, less frequently, other anomalies of the ventral midline. Intelligence may be normal but mild intellectual deficit may occur |
