Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, abnormalities involving the arms and hands, and distinctive facial features. The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.
Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been reported in people with this condition.
Researchers have demonstrated that a dysfunctional placenta can play a formerly unknown role during the earliest phases of development in Cornelia de Lange.