Opitz BBB/G syndrome (Q55328): Difference between revisions
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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 |
Statements
CID11:ID_1223495505
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