Autosomal dominant Opitz-Frias Syndrome (G Syndrome) is one of the 22q11.2 deletion phenotypes. It shares phenotypic features with X-linked Opitz Syndrome (BBB Syndrome).
Chromosome location: 22q11.2
Inheritance: autosomal dominant
Key features:
(1) hypertelorism
(2) telecanthus
(3) cleft lip and/or palate
(4) hypospadias
Other features may include:
(1) laryngotracheoesophageal cleft
(2) esophageal dysmotility with dysphagia
(3) bifid uvula
(4) heart defects
(5) renal or ureteral anomalies
(6) mental retardation or learning difficulties
(7) malformed ears
(8) cryptorchidism
(9) immune deficiency
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