pediatrics
Down Syndrome (Trisomy 21)
Symptoms and Signs of Down Syndrome
Affected neonates tend to be placid, rarely cry, and have hypotonia. Most have a flat facial profile (particularly flattening of the bridge of the nose), but some do not have obviously unusual physical characteristics at birth and then develop more noticeable characteristic facial features during infancy. A flattened occiput, microcephaly, and extra skin around the back of the neck are common. Typical physical features of people with Down syndrome include the following: Eyes have an upward angle at the lateral edge, epicanthal folds at the inner corners usually are present, and Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible. Mouth is often held open; a protruding, furrowed tongue may lack the central fissure. Ears are often small and rounded. Hands are often short and broad and often have a single transverse palmar crease, and fingers are often short, with clinodactyly (incurving) of the 5th digit, which often has only 2 phalanges. Feet may have a wide gap between the 1st and 2nd toes (sandal-gap toes), and a plantar furrow often extends backward on the foot. This photo shows a child with Down syndrome with a flattened nasal bridge, upslanting eyes, and epicanthal folds at the inner corners of the eyes. © Springer Science+Business Media This photo shows redundant nuchal folds in a baby with Down syndrome. © Springer Science+Business Media This photo shows white spots on the iris of a patient with Down syndrome. © Springer Science+Business Media RALPH C. EAGLE, JR./SCIENCE PHOTO LIBRARY This photo shows a young man with many typical physical characteristics of Down syndrome such as short stature, frontal balding, thin hair, epicanthal folds, thick neck, and mild truncal obesity. By permission of the publisher. From Bird T, Sumi S:Atlas of Clinical Neurology. Edited by RN Rosenberg. Philadelphia, Current Medicine, 2002. As affected children grow, delay of physical and mental development becomes apparent. Stature is often short. The mean IQ is about 50, but this varies widely. Behavior suggestive of Attention-Deficit/Hyperactivity Disorder (ADD, ADHD) is often present in childhood, and the incidence of autistic behavior is increased (particularly in children with profound There is an increased risk of Depressive Disorders in Children and Adolescents in children and adults with Down syndrome. Symptoms of heart disease are determined by the type and extent of the cardiac anomaly. Infants with congenital heart defects, the most common of which are Ventricular Septal Defect (VSD) and Murmurs may not be present; however, a number of different murmurs are possible. Infants with Hirschsprung Disease usually have delay in passage of meconium. Severely affected infants may have signs of intestinal obstruction (eg, bilious vomiting, failure to pass stool, abdominal distention). Duodenal Obstruction can manifest with bilious vomiting or with no symptoms, depending on the extent of the stenosis. These defects may be detected by prenatal ultrasonography (double-bubble sign). 