Wolf
Hirschhorn SyndromeThis syndrome occurs at a rate of 1 in 50,000 births
and there is a higher incidence among females with a male to female ratio of 1:2. There is a deletion of the short
arm of chromosome 4, which is necessary for midline closure in the fetus,
so there are midline closure defects, distinct facial abnormalities, seizures
and mental retardation. Signs and symptoms The
newborn baby has a small head (microcephaly), low muscle tone (hypotonia), and
a cleft palate or cleft lip. About 20% of all cleft lip cases are due to genetic
abnormalities like this syndrome, with respect to all cases of cleft palates in
the population at large underlying genetic abnormalities like this syndrome are
found to be present at even a higher percentage (in about 50%). Here is an image
of a boy
with Wolf Hirschhorn syndrome. The eyes are wide apart (ocular
hypertelorism), there are highly arched eyebrows and there is a downturned mouth
(fish mouth). The jaw is underdeveloped (hypognathia) and the ears have tags and/or
pits. After birth the child stays behind in growth (growth retardation) and the
muscles are underdeveloped. The child is slow in developing and mental retardation
of various degrees is evident in all of the cases. Many other abnormalities occur
in patients with Wolf Hirschhorn Syndrome: skeletal abnormalities occur in 65%,
congenital heart disease is present in 50%, conductive hearing loss in about 45%,
brain structure abnormalities in 35% and urinary tract malformations in 25%. Prognosis There is a mortality of about
30% in the first two years of life due to major malformations in the heart, brain,
face and due to aspiration pneumonia and other infections. Depending on the severity
of these malformations, the person afflicted with this genetic abnormality will
have a longer or shorter life expectancy.
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