Cornelia de Lange Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Cornelia de Lange Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Amsterdam syndrome
  • BDLS
  • Brachmann-de Lange Syndrome
  • CdLS
  • de Lange Syndrome

Disorder Subdivisions

  • None

General Discussion

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental retardation. Many infants and children with the disorder have an unusually small, short head (microbrachycephaly); an abnormally long vertical groove between the upper lip and nose (philtrum); a depressed nasal bridge; upturned nostrils (anteverted nares); and a protruding upper jaw (maxillary prognathism). Additional, characteristic facial abnormalities may include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the forehead and the back of the neck; and abnormally curly, long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, or webbing (syndactyly) of certain toes. Less commonly, there may be absence of the forearms, hands, and fingers. Infants with Cornelia de Lange syndrome may also have feeding and breathing difficulties; an increased susceptibility to respiratory infections; a low-pitched "growling" cry; heart defects; delayed skeletal maturation; hearing loss; or other physical abnormalities. The range and severity of associated symptoms and findings may be extremely variable from case to case.

Cornelia de Lange syndrome can be inherited as an autosomal dominant condition or an X-linked condition. The only genes that have been found to be associated with Cornelia de Lange syndrome are the NIPBL gene on chromosome 5 and the SMC1L1 gene on the X chromosome. Most affected individuals have an abnormal gene as a result of a new gene mutation and do not have an affected parent. Other genes may be found to be associated with Cornelia de Lange syndrome in the future.

Supporting Organizations

American Academy of Audiology

11730 Plaza America Drive, Suite 300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: infoaud@audiology.org
Website: http://www.audiology.org

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Website: http://www.ccakids.com

Cornelia de Lange Syndrome Foundation, Inc.

302 West Main Street, #100
Avon, CT 6001
Tel: (860)676-8166
Fax: (860)676-8337
Tel: (800)753-2357
Email: info@cdlsusa.org
Website: http://www.cdlsusa.org

FACES: The National Craniofacial Association

PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Let Them Hear Foundation

1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Website: http://www.letthemhear.org

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

Medical Home Portal

Dept. of Pediatrics
University of Utah
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899
Email: mindy.tueller@utah.edu
Website: http://www.medicalhomeportal.org

NIH/National Institute on Deafness and Other Communication Disorders

31 Center Drive, MSC 2320
Communication Avenue
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

National Consortium on Deaf-Blindness

The Teaching Research Institute
345 N. Monmouth Avenue
Monmouth, OR 97361
Tel: (800)438-9376
Fax: (503)838-8150
Tel: (800)438-9376
Email: info@nationaldb.org
Website: http://www.nationaldb.org

Perkins School for the Blind

175 North Beacon Street
Watertown, MA 2472
Tel: (617)924-3434
Fax: (617)926-2027
Email: Info@Perkins.org
Website: http://www.Perkins.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/6/1970
Copyright  2008 National Organization for Rare Disorders, Inc.