Cornelia de Lange Syndrome 3

Common Name(s)

Cornelia de Lange Syndrome 3

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by {3:Gil-Rodriguez et al., 2015}). For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cornelia de Lange Syndrome 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cornelia de Lange Syndrome 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cornelia de Lange Syndrome 3" returned 4 free, full-text research articles on human participants. First 3 results:

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
 

Author(s): I D Krantz, E Tonkin, M Smith, M Devoto, A Bottani, C Simpson, M Hofreiter, V Abraham, L Jukofsky, B P Conti, T Strachan, L Jackson

Journal: Am. J. Med. Genet.. 2001 Jun;101(2):120-9.

 

Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases ...

Last Updated: 6 Jun 2001

Go To URL
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
 

Author(s): M Ireland, C English, I Cross, W T Houlsby, J Burn

Journal: J. Med. Genet.. 1991 Sep;28(9):639-40.

 

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

Last Updated: 27 Dec 1991

Go To URL
Cornelia de Lange syndrome with ring chromosome 3.
 

Author(s): G N Wilson

Journal: J. Med. Genet.. 1991 Feb;28(2):143.

 

Last Updated: 12 Apr 1991

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cornelia de Lange Syndrome 3" returned 1 free, full-text review articles on human participants. First 3 results:

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
 

Author(s): Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W Innis, Nancy B Spinner, Laird G Jackson, Ian D Krantz

Journal: Am. J. Med. Genet. A. 2005 Sep;137A(3):276-82.

 

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in approximately 50% of individuals with CdLS. ...

Last Updated: 29 Aug 2005

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.