Dominant Syndrome Definition Cardiac Defect This is a genetic disorder characterized by Alagille Peripheral jaundice in the newborn period, liver disease with (arteriohepatic pulmonary cholestasis, peripheral pulmonic stenosis, and dysplasia) syndrome stenosis unusual face. Also known as arteriohepatic dysplasia. Complex cyanotic and acyanotic heart Asplenia/Polysplenia, disease, Heterotaxy The absence of a spleen or one that functions. anomalous syndromes veins, pulmonary atresia Ventricular, Coloboma, Heart defects, Atresia of the choanae, atrioventricular, Retardation of growth and development, Genital CHARGE and atrial septal and urinary abnormalities, Ear abnormalities defects and/or hearing loss. Cri du chat syndrome is a group of symptoms Variant forms of that result from missing a piece of chromosome Cri-du-chat congenital number 5. The syndrome's name is based on the abnormalities infant's cry, which is high-pitched and sounds like a cat. Tetralogy of A relatively common birth defect syndrome with Cornelia De Lange Fallot, multiple malformations and mental retardation of syndrome ventricular unknown origin. Also called de Lange syndrome. septal defect DiGeorge: A genetic disorder characterized by Aortic arch hypocalcemia, immunodeficiency, and congenital DiGeorge, anomalies, heart disease. Velocardiofacial: A congenital Velocardiofacial, Tetralogy of malformation syndrome characterized by cleft 22q11 deletion. Fallot palate, heart defects, abnormal facial structure, and learning problems. Atrioventricular Down syndrome is a relatively common birth septal defects, Down Syndrome defect that causes mental retardation, a ventricular characteristic face, and multiple malformations. septal defect A type of short stature with striking shortening of the ends of the extremities, polydactyl, fusion of Ellis-van Creveld bones in the wrist, dystrophy of the fingernails, Single atrium syndrome change in the upper lip variously called 'partial

file:///C|/inetpub/InquisiqEX-LMS/warehouse/1076-2009-Dec-22-89ktj5i2ae259lded294/table.html[2/23/2010 3:19:25 PM] hare-lip,' 'lip-tie,' and so forth, and cardiac malformations. Ventricular septal defect, Fetal alcohol syndrome (FAS) always involves Fetal Alcohol atrial septal brain damage, impaired growth, and head and syndrome defect, face abnormalities. Tetralogy of Fallot The characteristic features of the fragile X syndrome in boys include prominent or long ears, Mitral valve a long face, delayed speech, large testes Fragile X syndrome prolapse, aortic (macroorchidism), hyperactivity, tactile root dilation defensiveness, gross motor delays, and autistic- like behaviors. Congenital malformation of the jaw, cheek and Tetralogy of ear associated with vertebral defects. There is Goldenhar syndrome Fallot deformity of the external ear and abnormal smallness of that half of the face. Atrial or A genetic syndrome characterized by the Holt-Oram ventricular combination of heart disease and malformations syndrome septal defect of the upper limb. Hypertrophic Infants born to mothers who have diabetes are Infant of diabetic cardiomyopathy, generally larger than other babies. They may mother ventricular have large organs, particularly the liver, adrenal septal defect glands, and heart. Marfan syndrome is a heritable condition that Aortic root affects the connective tissue. Marfan syndrome dissection, Marfan Syndrome can affect many body systems, including the mitral valve skeleton, eyes, heart and blood vessels, nervous prolapse system, skin, and lungs. A multifaceted genetic disorder characterized by a Pulmonic series of birth defects including dysmorphic facial Noonan syndrome stenosis, atrial features, short stature after birth webbing of the septal defect neck, caved-in chestbone, cardiovascular problems, and bleeding tendency. Polycystic kidney Mitral valve A genetic disorder characterized by the disease prolapse development of innumerable cysts in the kidneys. Patent ductus The constellation of abnormalities caused by arteriosus, infection with the rubella virus before birth. The Rubella syndrome peripheral syndrome is characterized by multiple congenital pulmonary malformations and mental retardation. stenosis

file:///C|/inetpub/InquisiqEX-LMS/warehouse/1076-2009-Dec-22-89ktj5i2ae259lded294/table.html[2/23/2010 3:19:25 PM] Arterial septal defect, Thrombocytopenia and Aplasia of the Radius TAR syndrome Tetralogy of (TAR): these features characterize this syndrome. Fallot Condition with three rather than the normal two chromosomes #13. Congenital malformations Ventricular commonly include scalp defects, hemangiomas of Trisomy 13 septal defect, the face and nape of the neck, cleft lip and syndrome patent ductus palate, malformations of the heart and abdominal arteriosus organs, and flexed fingers with extra digits. Also called Patau syndrome. There are three instead of the normal two Ventricular chromosomes #18. Children characteristically Trisomy 18 septal defect, have low birth weight, small head small jaw, syndrome patent ductus malformations of the heart and kidneys, clenched arteriosus fists with abnormal finger positioning, and malformed feet. Also called Edwards Syndrome. A chromosomal condition that alters development Coarctation of in females. Women with this condition tend to be the aorta, Turner syndrome shorter than average and are usually unable to bicuspid aortic conceive a child because of an absence of ovarian valve function. Supravalvular A genetic disorder characterized by mild mental aortic stenosis, retardation, unique personality characteristics, Williams syndrome peripheral unusual facial features, and cardiovascular pulmonary disease. stenosis

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