Mrs. Elizabeta KARABIBEROVA
(+359) 888 330 318
(+359 2) 958 96 78
What is the 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 birthweight (usually, but not always, under five pounds), delayed 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, downturned 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.
The CdLS Association exists to ensure early and accurate diagnosis of CdLS ; promote research into the causes and manifestations of the syndrome and help people with a diagnosis of CdLS to make informed decisions throughout their lifetime.
The Association is run entirely by volunteers including parents and professionals.
Last modification: 10:01 22.08.2008