×
MedSchool: Ace Your OSCEsThe Medical Company
 
 
 
 
 
GET - On the App Store
View
Genetic Disorders
 
 

Down Syndrome

 
Bookmark
On this page:Manifestations

Overview

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

Manifestations

    • 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
 
----------------------------------------------------------------------------------------------------------------------------------------------------------------------------
Want more info like this?
  • Your electronic clinical medicine handbook
  • Guides to help pass your exams
  • Tools every medical student needs
  • Quick diagrams to have the answers, fast
  • Quizzes to test your knowledge
Sign Up Now