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Genetic Disorders

Down Syndrome

On this page:Manifestations


  • Down syndrome occurs as a result of trisomy 21, or three copies of chromosome 21.


    • Clinical Features

    • Short stature
    • Brachycephaly: flat head
    • Flat nasal bridge
    • Open mouth with protuberant tongue
    • Epicanthal folds: a fold of skin of the upper eyelid that covers the inner corner of the eye
    • Ligamentous laxity
    • Hypotonia: low muscle tone
    • Brachydactyly: short fingers and toes
    • Fifth finger clinodactyly: bending of the little finger toward the ring finger
    • Broad hands, single palmar crease
    • Wide 1-2 toe gap
    • Complications of Down Syndrome

    • Cardiovascular: At Birth

    • Atrioventricular (AV) septal defects
    • Ventricular septal defect
    • Atrial (secundum) septal defect
    • Persistent ductus arteriosus
    • Tetralogy of Fallot
    • Cardiovascular: In Adolescence

    • Mitral valve prolapse
    • Aortic regurgitation
    • Other

    • Developmental Delay
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