CHDs/Genetic Conditions/Related Syndromes

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 means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other… Continue Reading

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 with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The… Continue Reading

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 disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease… Continue Reading

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 or both of the AV valves. Endocardial cushion defect is a congenital defect present at birth. The severity of the symptom complex and presentation is… Continue Reading

Kawasaki disease is a rare syndrome of unknown origin that causes high fever, reddening of the eyes (conjunctivitis), lips and mucous membrane of the mouth, gingivitis (ulcerative gum disease), swollen neck glands and a bright red rash over the skin of the hands and feet, in young children. Kawasaki disease causes inflammation in the walls… Continue Reading