Disability
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Dubowitz Syndrome |
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General Information |
Dubowitz syndrome is a
very rare genetic and developmental disorder involving multiple
congenital (inherited) anomalies including but not limited to: (1)
growth failure/short stature; (2) unusual but characteristic facial
features; (3) a small head (microencephaly); (4) mild (usually) mental
retardation; and (5), in at least 50% of the cases, eczema. Multiple
organ systems are affected and the disorder is unpredictable and
extremely variable in its expression. Symptoms may be detected while
the fetus is still in the uterus (intrauterine) as well as immediately
after birth (neonatal).
Facial appearance is a key to the diagnosis, with characteristic high
or sloping forehead; sparse hair; flat, undeveloped (hypoplastic)
bones above the eyes (supraorbital ridges); increased distance between
the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic)
lateral eyebrows; very small lower jaw (micrognathia) and receding
chin (retrognathia). Affected children are often hyperactive, stubborn
and shy.
For more
information, visit the National Organization for Rare Disorders (NORD)
at www.rarediseases.org.
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National Resources &
Websites |
List provided by
the National Organization for Rare Disorders (NORD) at
www.rarediseases.org.
Genetic Alliance
4301 Connecticut Avenue NW
Washington DC 20008-2304
Phone #: 202-966-5557
800 #: 800-336-4363
Learning Disabilities Association of America
4156 Library Road
Pittsburgh PA 15234-1349
Phone #: 412-341-1515
800 #: 888-300-6710
e-mail: info@ldaamerica.org
Home page:
http://www.ldaamerica.org
The Arc
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
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