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Trisomy 18

What is Edwards Syndrome ?  

Edwards syndrome is a genetic condition where the child develops three copies of chromosome 18 in each cell of their body, instead of the usual two. The development of the baby would have been very slow in the womb. Nearly three-fourths of the babies with the syndrome are either miscarried or are stillborn. Developmental disability is seen in the babies who survive.

Cause(s) :  
  • Genetics
Symptoms :  
Facial anomalies:
  • Small, abnormally shaped head
  • Small jaw and mouth, sometimes cleft palate
  • low-set ears
Other abnormalities:
  • Long fingers, overlapping each other
  • Short fingernails
  • Clenched fists
  • Smooth feet with rounded base
Internal organs affected:
  • Heart and kidney problems
  • Hernias at abdominal wall
  • bone abnormalities, curved spine
Other defects seen:
  • Feeding problems in infancy
  • Breathing problems and frequent infections of lungs
  • Seizures
  • Learning disabilities
Diagnosis and Tests :  
  • Cytogenetic studies
  • Chromosomal analysis
  • Echocardiography
  • Ultrasound during pregnancy
Category :  Congenital Conditions

Specialist to consult :  Paediatrics



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