de Lange syndrome: A clinical review of 310 individuals

Abstract

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

“…CdLS (OMIM #122470, also known as Brachmann-de Lange syndrome) is estimated to occur at a frequency of 1 per 10,000 to 30,000 births and displays significant deficits in both physical and mental development (de Lange 1933;Ireland et al 1993;Jackson et al 1993;Opitz 1985). The deficits begin prenatally and continue after birth.…”

Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

“…CdLS patients display slow growth, mental retardation, and defects in limbs and organs (Dorsett 2007;Jackson et al 1993;Strachan 2005). Most do not show cohesion defects (Kaur et al 2005;Vrouwe et al 2007), suggesting that the diverse developmental deficits are caused by gene expression changes similar to those in Drosophila.…”

Social Anxiety in Cornelia de Lange Syndrome

“…CdLS is associated with intellectual disability ranging from mild to profound, health problems including vision and hearing impairments and gastro-oesophageal reflux (Berney, Ireland & Burn, 1999;Jackson et al, 1993;Collis et al, 2008;Hall, Arron, Sloneem and Oliver, 2008;. Behavioral problems associated with CdLS include impulsivity, repetitive and self injurious behaviors (Berney et al, 1999;Hyman, Oliver and Hall, 2002, Moss et al, In press).…”