Alternative titles; symbols. The Cornelia de Lange syndrome CDLS is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features summary by Rohatgi et al. Boyle et al. Brachmann reported on a fetus with a very severe form of what is now known as the Cornelia de Lange syndrome.
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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 leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. 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.
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 hypertrichosis , 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, and eye problems have also been reported in people with this condition.
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10, to 30, newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.
Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common. The proteins produced from all five genes contribute to the structure or function of the cohesin complex, a group of proteins with an important role in directing development before birth. Within cells, the cohesin complex helps regulate the structure and organization of chromosomes, stabilize cells' genetic information, and repair damaged DNA.
The cohesin complex also regulates the activity of certain genes that guide the development of limbs, face, and other parts of the body. The features of Cornelia de Lange syndrome vary widely, and the severity of the disorder can differ even in individuals with the same gene mutation. Researchers suspect that additional genetic or environmental factors may be important for determining the specific signs and symptoms in each individual. Mutations in the HDAC8 gene cause a somewhat different set of features, including delayed closure of the "soft spot" on the head the anterior fontanelle in infancy, widely spaced eyes , and dental abnormalities.
In about 30 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Researchers are looking for additional changes in the five known genes, as well as mutations in other genes, that may cause this condition. 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. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome , one of the two sex chromosomes. Studies of X-linked Cornelia de Lange syndrome indicate that one copy of the altered gene in each cell may be sufficient to cause the condition.
Unlike X-linked recessive conditions, in which males are more frequently affected or experience more severe symptoms than females, X-linked dominant Cornelia de Lange syndrome appears to affect males and females similarly.
Cornelia de Lange syndrome. Clin Genet. Epub Oct Cornelia de Lange Syndrome. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. Epub May Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet. Epub Jan 8. Nat Genet. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat. Epub Sep Epub Apr 9. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
J Clin Invest. Epub Jan 9.
Cornelia de Lange syndrome
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.
Cornelia de Lange syndrome: A case report. Specializing in Estomatology 3 Ph. D in Odontology. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic.
Intensive Neuromotor Therapy improves motor skills of children with Cornelia de Lange Syndrome: case report. Children with CdLS usually require physical therapy, however the efficacy of physical therapy intervention in this population is lacking in the research literature. The child demonstrated an evolution of gross motor function with gains of The first publication was dated from , in Holland 1.
Cornelia de Lange syndrome CdLS is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows , a small nose , small stature, developmental delay, long or smooth philtrum , thin upper lip and downturned mouth. The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange , who described it in