Cornelia de Lange Syndrome
Encyclopedia
Cornelia de Lange Syndrome (CdLS) often termed as Bushy Syndrome is a genetic disorder
that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.
! Appx. %
! Notes
|-
| CDLS1
|
| NIPBL
| 50%
| A gene responsible for CdLS on Chromosome 5 was discovered in 2004 jointly by researchers at the Children’s Hospital of Philadelphia, USA and researchers at Newcastle University, UK.
|-
| CDLS2
|
| SMC1A
| 5%
| In 2006, a second gene, on the X chromosome
, was found by Italian scientists.
|-
| CDLS3
|
| SMC3
| 1%
| A third gene discovery was announced in 2007. The gene is on chromosome 10 and was also discovered by the research team in Philadelphia.
|}
The latter two genes seem to correlate with a milder form of the syndrome.
Evidence of a linkage at chromosome 3q26.3 is mixed.
CdLS is thought to be underdiagnosed and frequently misdiagnosed.
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members.
CdLS can give rise to its own array of complexities. Children with CdLS often suffer from gastrointestinal tract
difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation
, diarrhea
or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. Symptoms may range from mild to severe.
CdLS may include behavior problems, including self-stimulation, aggression, self-injury or strong preference to a structured routine. Many children with CdLS exhibit autistic-like behaviors.
Behavior problems in CdLS are not inevitable. Many behavior issues associated with CdLS are reactive (i.e., something happens within the person's body or environment to bring on the behavior) and cyclical (comes and goes). Often, an underlying medical issue causes a change in behavior. Once the medical issue is treated, the behavior diminishes.
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.
! Appx. %
! Notes
|-
| CDLS1
|
| NIPBL
NIPBL
Nipped-B-like protein , also known as delangin or SCC2 homolog is a protein that in humans is encoded by the NIPBL gene.- Function :...
| 50%
| A gene responsible for CdLS on Chromosome 5 was discovered in 2004 jointly by researchers at the Children’s Hospital of Philadelphia, USA and researchers at Newcastle University, UK.
|-
| CDLS2
|
| SMC1A
SMC1A
Structural maintenance of chromosomes protein 1A is a protein that in humans is encoded by the SMC1A gene.-Interactions:SMC1A has been shown to interact with SMC3 and Ataxia telangiectasia mutated.-External links:*...
| 5%
| In 2006, a second gene, on the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
, was found by Italian scientists.
|-
| CDLS3
|
| SMC3
| 1%
| A third gene discovery was announced in 2007. The gene is on chromosome 10 and was also discovered by the research team in Philadelphia.
|}
The latter two genes seem to correlate with a milder form of the syndrome.
Evidence of a linkage at chromosome 3q26.3 is mixed.
History
The first ever documented case was in 1916 by W. Brachmann followed up by Cornelia de Lange, a Dutch pediatrician, in 1933 after whom the disorder has been named.Diagnosis
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms (see below) observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. Since 2006, testing for NIPBL and SMC1A has been available through the University of Chicago.http://www.genes.uchicago.edu/ This is best accomplished through a referral to a genetics specialist or clinic.CdLS is thought to be underdiagnosed and frequently misdiagnosed.
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members.
CdLS can give rise to its own array of complexities. Children with CdLS often suffer from gastrointestinal tract
Gastrointestinal tract
The human gastrointestinal tract refers to the stomach and intestine, and sometimes to all the structures from the mouth to the anus. ....
difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation
Constipation
Constipation refers to bowel movements that are infrequent or hard to pass. Constipation is a common cause of painful defecation...
, diarrhea
Diarrhea
Diarrhea , also spelled diarrhoea, is the condition of having three or more loose or liquid bowel movements per day. It is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause dehydration and...
or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. Symptoms may range from mild to severe.
CdLS may include behavior problems, including self-stimulation, aggression, self-injury or strong preference to a structured routine. Many children with CdLS exhibit autistic-like behaviors.
Behavior problems in CdLS are not inevitable. Many behavior issues associated with CdLS are reactive (i.e., something happens within the person's body or environment to bring on the behavior) and cyclical (comes and goes). Often, an underlying medical issue causes a change in behavior. Once the medical issue is treated, the behavior diminishes.
Treatment
Often, an interdisciplinary approach to therapy and treatment of any medical issues that arise is recommended. A team for promotion of the child's well being often includes speech, occupational and physical therapists, teachers, physicians and, most importantly, the parent(s). Treatment protocols can be viewed at http://www.cdlsusa.org/treatment_protocols.shtml.Support
The Cornelia de Lange Syndrome (CdLS) Foundation is a nonprofit, family support organization based in Connecticut which provides materials for public education and information. In addition to Reaching Out, a bi-monthly newsletter, the foundation produces and distributes other publications on the syndrome, as well as a free video http://www.cdlsusa.org/video/index.shtml.External links
- Cornelia de Lange Syndrome Foundation, Inc.
- Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome
- Genetic Alliance
- Cleft and Craniofacial Anomalies
- Pediatric Database (PEDBASE)
- GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange syndrome
- Leiden Open Variation Database for Cornelia de Lange Syndrome