Down syndrome

external

• Synonyms

  • Trisomy 21

• Causes

  • Non-dysjunction
  • Robertsonian translocation
  • Trisomy 21

• Effects

  • Short stature
  • Mental retardation
  • Brachycephaly
  • Hypertelorism
  • Prominent epicanthic folds
  • Upward slanting palpebral fissures
  • Brushfield spot0.0%
  • Nystagmus
  • Bruxism
  • Low-set ears
  • Macroglossia
  • Simian palmar crease
  • Shortened fifth metacarpal
  • Dermatoglyphics
  • Divarication recti
  • Joint hypermobility
  • Sandal gap
  • Atrioventricular septal defect40.0%
  • Ventricular septal defect
  • Ostium primum atrial septal defect
  • Tetralogy of Fallot
  • Fenestrated semilunar valves
  • Patent ductus arteriosus
  • Duodenal atresia
  • Neonatal hypotonia
  • Non-hodgkin lymphoma
  • Leukaemia
  • Alzheimer disease
  • Raised alpha-fetoprotein
  • Coeliac disease
  • Alopecia areata
  • Anterior scalloping0.0%
  • Congenital strabismus
  • Congenital heart disease due to genetic syndromes
  • Secondary pulmonary hypertension
  • Acquired dilated cardiomyopathy
  • Congenital deafness

• Parents

  • Trisomy

• Description

  • "6% are translocations 2% are mosaics Named after John Langdon Down
  • British physician 1866 "