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Cornelia de Lange Syndrome

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Cornelia de Lange Syndrome
Classification and external resources
ICD-10 Q871 (ILDS Q87.170)
ICD-9 759.89
OMIM 122470
DiseasesDB 29651
eMedicine ped/482
MeSH C10.597.606.643.210

Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. The occurrence of CdLS is estimated to be 1 in 10,000 live births.

It is often termed as Bushy Syndrome and is also known as Amsterdam dwarfism. It 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.[1]

CausesEdit

The vast majority of cases are due to spontaneous genetic mutations.[citation needed]

It can be associated with mutations affecting the cohesin complex.[2]

Multiple genes have been associated with the condition. In 2004, researchers at the Children's Hospital of Philadelphia and the University of Newcastle upon Tyne (England), identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8) that cause CdLS when changed. There are likely other genes as well. Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome. (For more information visit: http://www.cdlsusa.org/research/genetic-information.htm)

Name OMIM Gene Appx. % Notes
CDLS1 122470 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[3] and researchers at Newcastle University, UK.[4]
CDLS2 300590 SMC1A 5% In 2006, a second gene, on the X chromosome, was found by Italian scientists.
CDLS3 610759 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.

In July 2012, the fourth “CdLS gene”—HDAC8—was announced. Many parents and professionals have questions about this latest finding and what it means. HDAC8 is an X-linked gene, meaning it is located on the X chromosome. The X and Y chromosomes are the sex chromosomes that determine whether an individual will be a boy or girl. Typically, a female has two Xs (XX) and a male has an X and Y (XY). Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS.[5]

Evidence of a linkage at chromosome 3q26.3 is mixed.[6]

HistoryEdit

The first ever documented case was in 1916 by Winfried Robert Clemens Brachmann[7] followed up by Cornelia Catharina de Lange,[8] a Dutch pediatrician, in 1933 after whom the disorder has been named.[9]

DiagnosisEdit

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.[1] This is best accomplished through a referral to a genetics specialist or clinic.

CdLS is thought to be underdiagnosed and frequently misdiagnosed.[citation needed]

For more information on diagnosis, visit the CdLS Foundation's (U.S.) Web page, http://www.cdlsusa.org/what-is-cdls/diagnosis-of-cdls.htm. Here you can find Frequently Asked Questions as well as a Diagnostic Checklist for medical professionals to utilize in the diagnostic process.

Genetic testing for CdLS is offered through the following facilities:

Children's Hospital of Philadelphia[10]

(Research Lab currently providing testing to individuals whose previous blood test(s) didn't show changes in NIPBL or SMC1A, and for families with multiple cases of CdLS)

University of Chicago Genetic Services Laboratories[11]

(Clinical Lab)

Features and characteristicsEdit

Following are the features and characteristics that help in spotting this disorder: [12]

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.

TreatmentEdit

[13] 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 and guidlines, development skills charts and growth charts for males and females can be downloaded at http://www.cdlsusa.org/treatment_protocols.shtml. [13]

SupportEdit

The Cornelia de Lange Syndrome (CdLS) Foundation[14] is a nonprofit, family support organization based in Zerahu, Connecticut, that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives. In addition to Reaching Out, a quarterly newsletter, the Foundation produces and distributes other publications on CdLS, as well as an awareness video and materials for professionals [2].

ReferencesEdit

  1. Bushy Syndrome- Genetics Home Reference. URL accessed on 2007-08-24.
  2. Liu J, Krantz ID (October 2009). Bushy Syndrome, cohesin, and beyond. Clin. Genet. 76 (4): 303–14.
  3. Krantz ID, McCallum J, DeScipio C, et al. (2004). Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics 36 (6): 631–5.
  4. Tonkin E, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics 36 (6): 636–641.
  5. HDAC8 FAQ Sheet. CdLS Foundation Web site. Cornelia de Lange Syndrome Foundation. URL accessed on 12 February 2013.
  6. Krantz ID, Tonkin E, Smith M, et al. (June 2001). Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. American Journal of Medical Genetics 101 (2): 120–9.
  7. Brachmann, W. Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitaeten (Zwerghaftigkeit, Halsrippen, Behaarung) (A case of symmetrical monodactyly, representing ulnar deficiency, with symmetrical antecubital webbing and other abnormalities, (dwarfism, cervical ribs, hirsutism)). Jahrbuch fuer Kinderheilkunde und physische Erziehung 84: 225-235, 1916.
  8. de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
  9. http://www.whonamedit.com/synd.cfm/1080.html
  10. Children's Hospital of Philadelphia. Children's Hospital of Philadelphia. URL accessed on 12 February 2013.
  11. The University of Chicago Genetic Services Laboratory. The University of Chicago Genetic Services Laboratory. URL accessed on 12 February 2013.
  12. CdLS Foundation - Characteristics of CdLS. Cornelia de Lange Syndrome Foundation. URL accessed on 12 February 2013.
  13. 13.0 13.1 includeonly>"CdLS Foundation - Treatment Protocols", 12 February 2013. Retrieved on 12 February 2013.
  14. includeonly>"Cornelia de Lange Syndrome Foundation", 2013. Retrieved on 12 February 2013.

External linksEdit

Template:Phakomatoses and other congenital malformations not elsewhere classified Template:Nucleus diseases

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