DownSyndromeDefinitionDownsyndrome,alsocalled.docVIP

Down Syndrome Definition: Down syndrome, also called “trisomy 21”, is the most common chromosomal abnormality. It was first identified in 1866 by Dr. Langdon Down, who described the syndrome as “Mongolism”. Incidence: It occurs in 1: 800 live-births. It is equal between both sexes. It was not until 1959 that Lejeune identified the presence of extra chromosome in the G group, as responsible for the syndrome. Types: * 92%-95 % of cases are true trisomy, due to the non-disjunction in chromosome 21 during meiosis in the formation of gametes. * 4 % of cases are translocation, where chromosome 21 is translocated to one of the chromosomes 14 or occasionally 22. This type can be hereditary and is not affected by parental age. * 1 % of cases are mosaic type, where different cells of the body exhibit either normal or abnormal chromosomes. In this type, the children’s physical and cognitive impairment is related to the percentage of cells that exhibit abnormal chromosomes. Etiology: The exact cause of the additional chromosome is unknown. The incidence of Down syndrome increases markedly as maternal age increases. Paternal age can also be a factor. Clinical features: They are similar in all types of Down syndrome. The common features characterizing infants with Down syndrome include: * Low birth weight. * Low muscle tone (hypotonia). * Joint laxity. * Skull: Small circumference at 20th percentile. * Bradycephaly: Short antero-posterior diameter of the head. * Flat facial profile. * Hair: Silky. * Eye: - Upward slanting. - Brushiefed spots. - Epicanthal folds. * Flat nasal bridge. * Protruded and fissured tongue. * Ear: - Small external ear. - Over folded helix. - Underdeveloped lobule. * Neck: In infants, mottled skin (excess skin on the back of the neck). * Hands: - Short and broad hands. - Clinodactyly (incurving of the 5th finger). Simian crease (joined two palmar transverse creases into one transverse crease). * Mental retardation: Moderate to severe low intelli