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Cornelia de Lange
Syndrome (CdLS) is a congenital syndrome, meaning it is present from
birth. Most of the signs and symptoms may be recognized at birth or
shortly thereafter. A child need not demonstrate each and every sign
or symptom for the diagnosis to be made.
As with other syndromes, individuals with CdLS strongly resemble one
another. Common characteristics include: low birth weight (often under
five pounds), slow growth and small stature, and small head size
(microcephaly). Typical facial features include thin eyebrows which
frequently meet at midline (synophrys), long eyelashes, short upturned
nose and thin, down-turned lips.
Other frequent findings include excessive body hair (hirsutism), small
hands and feet, partial joining of the second and third toes, incurved
fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft
palate, bowel abnormalities, feeding difficulties, and developmental
delay. Limb differences, including missing limbs or portions of limbs,
usually fingers, hands or forearms, are also found in some
individuals.
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Cornelia de Lange Syndrome Awareness
Day
Office of the Governor
http://www.michigan.gov/gov/0,1607,7-168-22678_25488-71950--,00.html
Resolved, That I, Jennifer M. Granholm, Governor of the State of
Michigan, do hereby proclaim May 10, 2003, as Cornelia de Lange
Syndrome Awareness Day in Michigan.
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Cornelia de Lange Syndrome Forum
Our goal is to provide emotional support and fellowship among parents
and caregivers of children and adults with CdLS. Here we can discuss
their accomplishments and defeats, knowing we can find understanding,
encouragement, or a shoulder to cry on. We can also get some idea of
how others address specific problems/concerns with feeding, learning,
schools, techniques and equipment. We are by no means a forum for
dispensing medical advice or diagnosis.
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Cornelia de Lange syndrome associated with cecal volvulus: report
of a case
Masumoto K, Izaki T, Arima T.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=
Abstract&list_uids=21333161
Cornelia de Lange syndrome is known to be occasionally associated with
gastrointestinal malformation. However, the occurrence of cecal
volvulus in such anomalies is very rare. We report a 15-y-old Japanese
boy with Cornelia de Lange syndrome associated with a cecal volvulus
secondary to non-fixation of the cecum and ascending colon.
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