Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GI tract problems are acute.
People with CdLS may exhibit behaviours that have been described as "autistic-like," including self-stimulation, aggression, self-injury or strong preference to a structured routine.
Often, an underlying medical issue, pain, social anxiety, environmental or caregiver stress can be associated with a change in behaviour.
The wide variation in phenotype is attributed to a high degree of somatic mosaicism in CdLS as well as the different genes and type of mutations.
[3] In 2004, researchers at the Children's Hospital of Philadelphia (United States) and the University of Newcastle upon Tyne (England) identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated.
[11] All of these genetic alterations occurring in CdLS patients affect proteins that function in the cohesin pathway.
The cohesin pathway is involved in cohesion of sister chromatids during mitosis, DNA repair, chromosome segregation and the regulation of developmental gene expression.
A team for promoting the child's well-being often includes speech, occupational and physical therapists, teachers, physicians, and parents.
[13] Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals.
The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888-1969), a German physician who wrote about the distinctive features of the disease found in his 19-day-old patient.
[15] Walther Johann Brachmann was qualified in medicine in 1913 and obtained an appointment as a clinical assistant at the children's hospital in Güttingen.
Since Brachmann was called to military action in the First World War, his research on the specific condition of the boy was stopped.
However, because pediatrics did not exist as a specialty in the Netherlands, De Lange moved to Switzerland, where she worked in the children's hospital in Zurich under Oskar Wyss.
[19] Cornelia de Lange's patients were two girls with unusual facies and mental retardation—one 17 months and the other 6 months—who were admitted within weeks of each other to Emma Children's Hospital.
Her first year of life had been characterized by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference.
This account attracted little attention but in 1941, after she had presented a further case to the Amsterdam Neurological Society, the disorder gained recognition.
Cornelia de Lange probably overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically.
At the time she based this diagnosis simply on behavioral observations without verification through psychological evaluation, which could have indicated the degree of intellectual disability.
Again, De Lange was aware that further studies were needed to unravel the underlying pathological anatomy of the identified condition.
[22] In a review in 1985, John Marius Opitz commented: "Brachmann's paper is a classic of Western Medical iconography, deserving to be commemorated in the eponym "Brachmann-de Lange syndrome."