Seizures, heart defects, and eye problems have also been reported in people with this condition.Ĭornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3.
Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.Īdditional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head ( microcephaly ), hearing loss, and problems with the digestive tract. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle ( synophrys ), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.Ĭornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature intellectual disability that is usually moderate to severe and abnormalities of bones in the arms, hands, and fingers.
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body.
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