The PAGOD syndrome refers to a rare combination of congenital malformations associated with secondary regression of midline structures including the gonadal anlage.
Inheritance: autosomal recessive
An affected patient will be phenotypically female with 46 chromosomes but may be XX or XY.
Acronym:
(1) P: pulmonary hypoplasia with hypoplasia of the accompanying pulmonary artery
(2) AG: agonadism
(3) O: omphalocele and/or diaphragmatic defect
(4) D: dextrocardia
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