What is Cornelia de Lange syndrome caused by?
What causes Cornelia de Lange syndrome? Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected.
How do you test for Cornelia de Lange syndrome?
Prenatal diagnosis is available if a specific NIPBL, SMC1A, SMC3, Rad21, HDAC8, ANKRD11 or BRD4 gene mutation has been identified. Sometimes a diagnosis of CdLS may be suspected before birth (prenatally) through the use of ultrasound imaging.
How often does learning disability occur with Cornelia de Lange syndrome?
The term ‘intellectual disability’ is used when a person has difficulties with both cognitive (intellectual) functioning and adaptive behaviour (everyday practical and social skills) in comparison to other individuals of the same age. These difficulties had to arise before the age of 18.
Is CdLS fatal?
CdLS occurs in 1 in 30,000–40,000 births, causing debilitating growth problems and deformities as well as behavioral difficulties. Misdiagnoses can result in patients succumbing to potentially fatal problems such as twisted bowel.
How rare is Cornelia de Lange?
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.
Who discovered Cornelia de Lange syndrome?
History. The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888–1969), a German physician who wrote about the distinct features of the disease from his 19-year-old patient, followed in 1933 by Cornelia Catharina de Lange (1871–1950), a Dutch pediatrician after whom the disorder has been named.