PAGOD syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 991

Definition

PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.

Epidemiology

Since the first publication in 1991, only 11 patients have been described.

Clinical description

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

Etiology is unknown but vitamin A deficiency has been suggested to play a role in the development of the syndrome.

Genetic counseling

Almost all cases are sporadic, except for 2 siblings, suggesting autosomal recessive inheritance.

Prognosis

Life expectancy is reduced due to cardiac and respiratory complications.

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