Opitz BBB/G syndrome (Q55328): Difference between revisions

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Latest 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
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