CdLS is a congenital syndrome first described in 1933 by Dutch pediatrician Cornelia de Lange. Currently, there is no record of how many people are currently affected or how often this occurs. Current estimates are between 1:10,000 and 1:30,000 births. There are also no definitive biochemical or chromosome markers for diagnosis, though research is ongoing.

Characteristics include:
low birth weight
delayed growth and small stature
small head size
thin eyebrows which frequently meet at midline
moderate to severe mental retardation
long eyelashes
short upturned nose
thin, down turned lips
excessive body hair
small hands and feet
partial joining of the second and third toes
incurved fifth fingers
severe gastroesophageal reflux
seizures
heart defects
cleft palate
bowel abnormalities
feeding difficulties (often severe enough to require a gastric feeding tube)
developmental delay (this puts CdLS in the the Autistic Spectrum)
Limb abnormalities, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some people.

Life expectancy for children born with CdLS is now into adulthood.

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