"The condition was initially described by the German physician Winfried Brachmann (1888-1969) in 1916 5 but was described in its full clinical presentation by Cornelia de Lange (1871-1950), a Dutch paediatrician for whom it is named, in 1933 16."
"Most cases are thought to be sporadic resulting in a new autosomal dominant mutation 8. Occasional autosomal dominant and autosomal recessive forms are known. Some have abnormalities in chromosome 3q26.3. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with Cornelia de Lange syndrome 6. Other implicated genes are RAD21 and HDAC8 15."
"low PAPP-a"
"The estimated incidence is at ~1:10,000-30,000 births 15. There is no recognised racial or gender predilection 8."
"microbrachycephaly, microcephaly or brachycephaly"