Diseases title

PAGOD syndrome )

Orpha Number: 991
Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome

PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.Since the first publication in 1991, only 11 patients have been described.Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others, atrial septal defect, left ventricular hypoplasia or ventricular septal defect, and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patients present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures.Etiology is unknown but vitamin A deficiency has been suggested to play a role in the development of the syndrome.Almost all cases are sporadic, except for 2 siblings, suggesting autosomal recessive inheritance.Life expectancy is reduced due to cardiac and respiratory complications.
source: Orphanet