What is Simpson-Golabi-Behmel syndrome? Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which [...]
What is Ellis-van Creveld syndrome? Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms [...]
TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those [...]
What is Peters plus syndrome? Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, developmental delay, an opening in the lip (cleft lip) with [...]
9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental [...]
To read about Anomalous Coronary Artery (ACA), click here. ALCAPA Anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA) is a rare but serious congenital [...]
Endocardial cushion defects, more commonly known as atrioventricular (AV) canal or septal defects, include a range of defects characterized by involvement of the atrial septum, the ventricular septum, and one [...]
What is Cardiofaciocutaneous Syndrome (CFC)?CFC syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features (facio-) and skin (cutaneous). It is seen with equal frequency in [...]
What is Andersen-Tawil syndrome? Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting [...]
Pulmonic stenosis (PS) refers to a dynamic or fixed anatomic obstruction to flow from the right ventricle (RV) to the pulmonary arterial vasculature. Although most commonly diagnosed and treated in [...]