Cantrell syndrome

Cantrell syndrome (Pentalogy of Cantrell) describes the concomitant occurrence of 5 major symptoms: the supraumbilical midline defect of the abdominal wall, the absence of anterior diaphragmatic plexuses, pericardial defects near the pelvis, anomalies of the lower sternum and congenital heart defects.

The most severe form is known as ectopia cordis. The prevalence among newborns is 5.5 / 1,000,000.

If there is omphalocele, especially if it is located above the abdominal nebula, further investigations should be performed for other malformations from the Cantrell syndrome spectrum. Especially cardiac defects, especially a Fallot's tetralogy or a left ventricular diverticulum, and anterior diaphragmatic herpes are a clear indication of the disease.

The type of heart failure often determines the severity of the disease and the limitation of life expectancy. 

Some symptoms are associated with the disease, for example, gallbladder agenesis, renal dysplasia, encephalocele, cystic hygroma colli, facial clefts and polysplenia.

The cause is unknown so far, most cases occur very sporadically. However, some families showed X-linked inheritance and cosegregation of the disease, affecting the gene region Xq25-q26.1. The family members had 6 different midline defects, suggesting that the defect of a single gene may affect and even destroy the midline development field.