Charlie M syndrome

Overview

A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.

Symptoms

* Wide set eyes * Broad nose * Small mouth * Cleft palate * Small jaw

Causes

The cause of Hanhart syndrome is not fully understood.

Diagnosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome, enteric duplication cyst, urachal cyst, ureteropelvic junction obstruction, posterior urethral valve syndrome, bladder extrophy, and ascites

Prognosis

There is a wide spectrum of severity with this syndrome. Survival is related to renal and pulmonary function. If complete urinary obstruction exists leading to severe bilateral renal dysplasia, oligohydramnios, and pulmonary hypoplasia, then prognosis is dismal.