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Opitz G/BBB syndrome

What are the symptoms?

In Opitz G/BBB syndrome the clinical features mainly affect midline structures of the body. Increased spacing between the eyes (hypertelorism) is often apparent but this is less important than difficulties in swallowing or breathing due to malformation of the larynx (voicebox), trachea (the main airway) or oesophagus (the gullet) or bottom (imperforate anus). Kidney abnormalities (Kidney disease) and hypospadias (displacement of the orifice at the tip of the penis) are common. Other complications are present less frequently.

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Medical text written October 2001 by Dr J Tolmie. Last updated September 2007 by Dr J Tolmie, Consultant Clinical Geneticist, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

 

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