Pentalogy of Cantrell is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. These defects are a cleft lower sternum, an anterior diaphragmatic [...]
Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy that is defined as deterioration in cardiac function presenting typically between the last month of pregnancy and up to five months [...]
IntroductionThe goal of this page is to describe the major features of tetrasomy 18p. This information may help you and your healthcare team make decisions about how to care for [...]
Patau Syndrome, also known as trisomy 13 and trisomy D, is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First [...]
Barth syndrome is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error [...]
Pulmonary Atresia with Intact Ventricular Septum (PA/IVS) is a rare congenital heart defect. Pulmonary atresia is when the valve that lets blood flow from the lower-right chamber (right ventricle) of [...]
What is VACTERL association? VACTERL or VATER association is an acronym used to describe a series of characteristics which have been found to occur together. V stands for anomalies of [...]
BackgroundCoronary sinus atrial septal defects (ASDs) are defects located in the portion of the atrial septum that includes the coronary sinus orifice and are characterized by the absence of at [...]
DescriptionSimpson-Golabi-Behmel Syndrome (SGBS) is also known as Simpson dysmorphia syndrome (SDYS), bulldog syndrome, Golabi-Rosen syndrome, and dysplasia gigantism syndrome X-linked (DGSX). SGBS is a rare inherited condition that primarily affects [...]
What is Romano-Ward syndrome?Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a [...]
