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Edward’s syndrome (trisomy 18)
1.
2. Edwards syndrome (also known as trisomy
18 [T18]) is a chromosomal disorder caused by
the presence of all, or part of, an extra 18th
chromosome. This genetic condition almost
always results
from nondisjunction during meiosis. It is named
after John Hilton Edwards, who first described
the syndrome in 1960. It is the second-most
common autosomal trisomy, after Down
syndrome, that carries to term.
3. LANE, FULL TRISOMY 18 AT 5 YEARS & 8 MONTHS OLD, HAVING A SIT
DOWN CHAT WITH MOMMY.
5. CHARACTERISTICS
kidney malformations
structural heart defect at birth (i.e. ventricular
septal defect, atrial septal defect, patent ductus
arteriosus
intestines protruding outside the body
(omphalocele)
esophageal atresia
intellectual disability
breathing difficulties
arthrogryposis (a muscle disorder that causes
multiple joint contractures at birth).
6. PHYSICAL MALFORMATIONS
small head (microcephaly) accompanied
by a prominent back portion of the head
(occiput)
low set, malformed ears
abnormally small jaw (micrognathia)
cleft lip/cleft palate
upturned nose
narrow eyelid folds (palpebral fissures)
7. In utero, the most common characteristic is
cardiac anomalies, followed by central nervous
system anomalies such as head shape
abnormalities. The most common intracranial
anomaly is the presence of choroid plexus
cysts, which are pockets of fluid on the brain.
These are not problematic in themselves, but
their presence may be a marker for trisomy
18. Sometimes, excess amniotic fluid or
polyhydramnios is exhibited.
8. 3 TYPES OF TRISOMY 18
Full Trisomy 18: The most common type of Trisomy 18 (occurring in about
95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome
occurs in every cell in the baby's body. This type of trisomy is not
hereditary. It is not due to anything the parents did or did not do—either
before or during pregnancy.
Partial Trisomy 18: Partial trisomies are very rare. They occur when only part
of an extra chromosome is present. Some partial Trisomy 18 syndromes
may be caused by hereditary factors. Very rarely, a piece of
chromosome 18 becomes attached to another chromosome before or
after conception. Affected people have two copies of chromosome 18,
plus a "partial" piece of extra material from chromosome 18.
Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra
chromosome is present in some (but not all) of the cells of the
body. Like full Trisomy 18, mosaic Trisomy is not inherited and is a
random occurrence that takes place during cell division.