Definition:
Edwards' syndrome is primarily caused by a gene mutation, particularly the extra copy of chromosome 18. For this very reason, it is also known by a medical term trisomy 18 syndrome. The presence of the extra chromosome has proven to be quite lethal for most babies who are born with this medical condition. Edwards' syndrome causes major physical malformations and also severe mental retardation and also comes with high mortality rate.
Diagnosis:
Karyotyping provides a definitive diagnosis for Edward's syndrome, which involves blood sampling or getting bone marrow samples to study chromosomes under the microscope.
Treatment:
There is no available cure for Edwards' syndrome. Abnormalities may be treated to some certain degree with some surgical procedure, but the administering of some extreme invasive procedures proves to be fatal to an infant. Medical therapy involves supportive care to prolong life.
Symptoms and Signs:
Patients with Edward's syndrome have unusually small head with prominent back along with ear malformation and are markedly low-set. The infant's mouth and jaw also appear abnormally small along with the possibility of a cleft palate or cleft lip. Hands also appear to be tightly clenched like fists with overlapping fingers.
Causes:
Humans normally have an exact 23 pairs of chromosomes. Occasionally, a genetic error may occur during the formation of the egg or sperm cell, causing mutation and genetic abnormalities to occur.
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