Cornelia de Lange syndrome is recognized by slow growth before and after birth, leading to short stature; intellectual disability, which is usually moderate to severe; and bony abnormalities of the hands, arms, and fingers. Most people with CdLS also have distinctive facial features, including long eyelashes, a common arched brow in the middle (synophrys), low ears, small and broadly arranged teeth, and an upturned and small nose.
Many people also have behavioral problems such as autism, a developmental disorder that affects communication and social interactions. If you wish to make donations to those who suffer CdLS, then click at hopeforvihaan.org/.
Additional signs and symptoms of CdLS can include excessive body hair (hypertrichosis), a very small head (microcephaly), hearing loss, and digestive problems. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in patients with this condition.
When Cornelia de Lange syndrome is caused by mutations in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new gene mutations and occur in people with no history of the condition in their family.