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         Cornelia De Lange Syndrome:     more detail
  1. Cornelia de Lange Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-20
  2. Cornelia de Lange Syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Laith, MD Gulli, Robert, BS Ramirez, 2005
  3. Cornelia de Lange Syndrome / Maple Syrup Urine Disease / Rubinstean-Taybi Syndrome: teaching considerations Part two.: An article from: Palaestra by Robert C. Weber, 2006-01-01
  4. Cornelia de lange syndrome / maple syrup urine disease / Rubinstein-Taybi syndrome: behavior issues, activities, and conclusions.: An article from: Palaestra by Robert C. Weber, 2006-03-22
  5. Cornelia de Lange Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  6. Love Ella: a mother's story of her daughter with Cornelia de Lange Syndrome by Madeleine Witham, 2006

1. CdLS-USA Outreach
Family support organization which exists to ensure the early and accurate diagnosis of CdLS, promote Category Health Support Groups Conditions and Diseases Genetic......The cornelia de lange syndrome (CdLS) Foundation is a nonprofit 501 (c)(3) voluntary health organization based in Avon, Connecticut (USA).
http://www.cdlsusa.org/
The initial developer of this Java applet is SoftCorporation LLC. href="http://www.softcorporation.com/products/textbanner"
A Community United by Cornelia de Lange Syndrome Contact the Foundation THE SYNDROME: FAQs About CdLS Treatment Protocols Growth Charts Ask the Doctor (SAC On-Line) ... Internet Links THE FOUNDATION: Our Mission Statement About the Foundation Member Directory Join the Foundation PUBLICATIONS: Facing the Challenges Enfrentando los DesafĂ­os Articles about CdLS CyberNews Archives ... Request Informational Material
Click the image to the left to view the CdLS Awareness flyer A Certain Kind of Love Go to www.acertainkindoflove.com to learn more about the book of the same name. You can also read a review of Jean Crowley's (mother of a CdLS child) book in the March/April issue of Reaching Out
Reaching Out Featured Article Click this link to read Dr. Richard Mungo's article, Healthy Smiles , from a recent issue of Reaching Out . See the links under FEATURED ARTICLES below for more articles and additional information...
Schedule Your CdLS Event Online Did you know that you can schedule your CdLS Awareness Activity or CdLS Gathering online? The online forms are accessible via the links below (they are also available via the "schedule your CdLS EVENT" links at the top and bottom of the

2. Baylee's Web Suite, Cornelia De Lange Syndrome
Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress.
http://www.geocities.com/Heartland/Plains/1508/
Oh, I believe there are Angels among us,
sent down to us from somewhere up above.
They come to you and me in our darkest hours
to show us how to live
to teach us how to give
to guide us with a light of love.... From "Angels Among Us", sung by Alabama.
This is Baylee and she was born with the Cornelia de Lange Syndrome on April 8, 1996. We are glad you stopped by! We want to tell you a little about Baylee and CdLS. This page is especially geared towards new parents, family and friends of CdLS children but all are welcome! CdLS is a very rare syndrome and you've probably never met someone who has it. So by the miracle of the internet, this page will allow us to meet, if only in cyberspace.
What is Cornelia de Lange Syndrome?
CdLS is thought to be genetic in nature and like other syndromes, individuals affected by it tend to resemble each other. Common characteristics include slow growth, small stature, microcephaly, excessive body hair, upper limb defects, heart defects, gastroesophageal reflux and developmental delays. Facial features include eyebrows that meet over the nose, upturned nose and thin, downturned lips. Childern are born with CdLS in every country in the world to people of all races, creeds and nationality. For everthing you would ever want to know about CdLS contact The Cornelia de Lange Syndrome Foundation . They are an excellent source of information and support for family and friends of children with CdLS! To network with other parents of children with CdLS, please visit our

3. Cornelia De Lange Syndrome
cornelia de lange syndrome Who to Contact The cornelia de lange syndrome Foundation, Inc. 302 West Main Street, 100 Avon, CT 06001 860676-8337 - Fax Where to Go to Chat with Others
http://www.familyvillage.wisc.edu/lib_cdls.htm
Cornelia de Lange Syndrome
Who to Contact
Where to Go to Chat with Others

Learn More About It

Web Sites
...
Search AltaVista for "Cornelia de Lange Syndrome"
Who to Contact
The Cornelia de Lange Syndrome Foundation, Inc.
302 West Main Street, #100
Avon, CT 06001
860-676-8337 - Fax
Where to Go to Chat with Others
  • CDLS-KIDS
    An e-mail discussion list for parents, caregivers, extended family, and friends of children with CDLS.
  • CDLS On-Line Parent Support Group
  • Amanda's RoomChat Room link
  • Learn More About It
    Web Sites
    Back to [ C - D
    Family Village Home

    Library
    Coffee Shop ... Information Last Updated March 25, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_cdls.htm

    4. The Contact A Family Directory - CORNELIA DE LANGE SYNDROME
    A description of cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis.
    http://www.cafamily.org.uk/Direct/c72.html
    printer friendly CORNELIA DE LANGE SYNDROME home more about us in your area conditions information ... how you can help search this site Cornelia de Lange: Brachmann-de Lange: De Lange I Syndrome: Amsterdam dwarfism Cornelia de Lange Syndrome (CDLS) is rare and affects between 1 in 40,000 and 1 in 100,000 babies born. Children with Cornelia de Lange Syndrome have a particular facial appearance and often look like brothers and sisters. They are small at birth and remain small compared to children of the same age. The ability to learn is delayed in children but this varies from mild to severe. Almost all have limb abnormalities which range from small arms to complete absence of the forearms. Feeding and bowel problems, particularly gastro-oesophageal reflux, are also present. In almost all cases the children will have an unusual marbled appearance to the skin on their arms and legs, particularly when they are cold. Some of the children will have psychological and behavioural problems including autistic-like features and self-injury. Other problems including heart problems may also be present. Inheritance patterns
    The cause of Cornelia de Lange syndrome is not known although it is almost certainly due to a genetic fault. It is rare for this condition to occur twice in the same family.

    5. Cornelia De Lange Syndrome
    de Lange Syndrome information, national and international support groups, clinics with genetic counselors and geneticists
    http://www.kumc.edu/gec/support/cornelia.html
    de Lange syndrome Cornelia de Lange syndrome, Brachman-DeLange
    Cornelia de Lange Syndrome Foundation
    302 West Main Street, #100 Avon, CT 06001 Telephone: 800.223.8355 or 860.676.8166 Fax: 860.676.8337 E-mail: info@cdlsusa.org
    Web site: www.cdlsusa.org or www.cdlsoutreach.org/
    CdLSWorld , international organizations Australasia (Australia, Malaysia, New Zealand, Philippines, Singapore and SE Asia) CdLS Association (Australasia), Inc.
    159 Boddington Crescent
    Australian Capital Territory
    Kambah 2902 AUSTRALIA
    E-mail: pcrawfor@dynamite.com.au
    Phone: 02 62 31 6866
    Web site: www.cdlsaus.org/
    New South Wales / Capital Territory Coordinator
    135 Princes Street
    Putney, New South Wales 2112 AUSTRALIA E-mail: jrollo@one.net.au Phone: 02 9809 0287 New Zealand 11 Winsomere Circle Westmere, Auckland 2 NEW ZEALAND E-mail: vernon@ptgroup.co.nz Phone: 09 378 0720 Malaysia and Singapore 20-25-2 Angkupuri Condominium Jalan 1/70C off Jalan Bukit Kiara 50480 Kuala Lampur MALAYSIA E-mail: mohdnor@simenet.com

    6. Pediatric Database
    A definition of cornelia de lange syndrome, the epidemiology, history, clinical features, organ malformations, investigations and management.
    http://www.icondata.com/health/pedbase/files/CORNELIA.HTM
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 6/15/94
    CORNELIA DE LANGE SYNDROME
    DEFINITION:
    A disorder of unknown etiology resulting in a syndrome characterized by specific dysmorphic features.
    EPIDEMIOLOGY:
    • incidence: 1/30,000-60,000 live births
    • age of onset:
      • newborn (dysmorphic features)
    • risk factors:
      • familial - ? autosomal recessive
        • chrom. #: 3q26.3
        • gene: ?
      • M = F
      • no geographic predisposition (worldwide)
      HISTORY:
      1. 1916 - W. Brachmann
      • young physician in training
      • interrupted study of case to report for active duty - WW1
        • patient:
          • 1st child, SVD @ 1600g @ term
          • admitted to hospital on day 6 - weak and vomiting
          • finally refused all nourishment and died at 16 days of pneumonia
          • dysmorphic features:
            • microcephaly, brachycephaly, sloped forehead, micrognathia, beaked nose, well-formed ears - small arms with hypoplastic forearms, flexed at elbows, antecubital web, symmetrical monodactyly with 2 phalanges
            • dwarfism, cervical ribs, hirsutism
          • report found by Dr. Opitz (U. of Wisconsin) in 1963
            • Opitz (1965) recommended "Brachmann-de Lange Syndrome BDLS"
            2. 1933 - Cornelia de Lange (1971-1950)
  • 7. FAQs About CdLS
    Why is it called cornelia de lange syndrome (CdLS)? Can CdLS be detected beforebirth? Top of Page. How is cornelia de lange syndrome (CdLS) recognized?
    http://www.cdlsusa.org/faqs_about_cdls.htm
    Return to our Home Page THE SYNDROME: FAQs About CdLS Treatment Protocols Growth Charts Ask the Doctor (SAC On-Line) SAC Answers ... Internet Links FAQs About CdLS What is a Syndrome? How is CdLS recognized? Why is it called Cornelia de Lange Syndrome (CdLS)? How many people have CdLS? ... If my child has CdLS, what can I expect?
    What is a syndrome? "Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it. Top of Page
    How is Cornelia de Lange Syndrome (CdLS) recognized? CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

    8. NORD - Cornelia De Lange Syndrome
    Offers the synonyms, a general discussion and further resources.
    http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=30

    9. Cornelia De Lange Syndrome Foundation - CdLS-USA
    cornelia de lange syndrome Foundation. (CdLSUSA)
    http://www.cdlsoutreach.com/info/facts_about_cdls.htm
    Cornelia de Lange Syndrome Foundation
    (CdLS-USA)
    You have most likely reached this page because you used an old bookmark. We have updated the CdLS-USA site; you can access the new site by following any of the links below: www.cdlsoutreach.org www.cdlsoutreach.com www.cdlsusa.org www.cdlsusa.com Please be sure to update your bookmark after you access the site!

    10. Cornelia De Lange Syndrome
    Hello, and welcome to Jessica's Place. Jessica was born in September 1996 andwas diagnosed with cornelia de lange syndrome (CdLS) at two months of age.
    http://www.geocities.com/Heartland/Meadows/8874/
    Hello, and welcome to Jessica's Place. Jessica was born in September 1996 and was diagnosed with Cornelia de Lange Syndrome (CdLS) at two months of age. With this web site, we'd like to share a little bit of Jessica's life and experience with CdLS in hopes of reaching out to families, caregivers, teachers and others who have a person with CdLS in their lives; as well as those interested in learning more about the syndrome. home what is CdLS? about me photos ... View Guestbook

    11. Cornelia De Lange Syndrome
    What is CdLS? cornelia de lange syndrome (CdLS) is a rare syndrome with no known cause.
    http://www.geocities.com/Heartland/Meadows/8874/cdls.html
    What is CdLS?
    Cornelia de Lange Syndrome (CdLS) is a rare syndrome with no known cause. Individuals with CdLS often strongly resemble each other and share many common characteristics such as small stature, small hands and feet, eyebrows that meet mid-line, long eyelashes, short upturned nose, and thin downturned lips. Limb anomolies, usually with the fingers, hands or forearms, are also found. The most common medical difficulties are gastroesophageal reflux, feeding and digestive problems, seizures, cleft palate and heart defects. The majority experience developmental delays; the most significant delay being speech. For more information about CdLS, please visit the CdLS Foundation web site.
    Support
    Because it is such a rare syndrome it is often difficult to find local families or support groups. The internet offers a wonderful opportunity for families to connect. If you have a person with CdLS in your life and would like to communicate with other CdLS families, please visit the CdLS Online Support Group web site.
    home
    what is CdLS?

    12. Special Child: Disorder Zone Archives - Cornelia De Lange Syndrome
    cornelia de lange syndrome Madalyn Gilchrist. cornelia de lange syndrome (CdLS) isa disorder that results in several physical and developmental abnormalities.
    http://www.specialchild.com/archives/dz-010.html
    Disorder Zone
    Archives Cornelia de Lange Syndrome
    Madalyn Gilchrist
    Ketchel Clements Introduction Cornelia de Lange syndrome (CdLS) is a disorder that results in several physical and developmental abnormalities. The cause of CdLS is unknown at this time, however, it is thought that the disorder may be of a genetic nature (possibly a faulty gene on chromosome 3). Most cases are sporadic, however, there has been documentation of affected siblings, which would suggest inheritance. It is said to occur in 1 in 10,000 to 1 in 30,000 live births and is found equally in males and females. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed. CdLS was first described in 1916 by Dr. W. Brachmann and was later identified again by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933. Both physicians described children with common symptoms and characteristics (as shown below). Features and Characteristics There are several physical and developmental characteristics that are associated with CdLS, however, not every individual has all the characteristics. The following is a list of the most common traits:
    • Low birth weight (usually under 5 pounds) Delayed growth and small stature Developmental delay Limb differences (sometimes missing limbs or portions of limbs) Small head size (microcephaly) Thin eyebrows which typically meet at midline Long eyelashes Short upturned nose and thin downturned lips Long philtrum Excessive body hair

    13. Special Child: Disorder Zone Archives
    Multiplex Congenita Asperger Syndrome Attention Deficit Hyperactivity DisorderAutism Cerebral Palsy CHARGE Syndrome cornelia de lange syndrome Cri Du Chat
    http://www.specialchild.com/disorder.html
    Disorder Zone
    Archives Angelman Syndrome
    Apert Syndrome

    Arthrogryposis Multiplex Congenita

    Asperger Syndrome
    ...
    Williams Syndrome
    The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges
    By using Special Child and related services, you agree to abide by the terms and conditions

    14. HealthlinkUSA Cornelia De Lange Syndrome Links
    AhHa. Click here for page 1 of cornelia de lange syndrome informationfrom the HealthlinkUSA directory. Save on Drugs Here. Accutane;
    http://www.healthlinkusa.com/82ent.htm

    15. HealthlinkUSA Cornelia De Lange Syndrome Links
    Try it, you'll love it! AhHa. Click here for page 1 of cornelia de lange syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here.
    http://www.healthlinkusa.com/cornelia_de_lange_syndrome.htm

    16. Health Information Resource Database: Cornelia De Lange Syndrome Foundation, Inc
    Services.. cornelia de lange syndrome Foundation, Inc. Contact Information.Director 302 West Main Street 100 Avon, CT 06001. 800
    http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2107

    17. Database Search Results
    Database Search Results. Searched keywords for cornelia de lange syndrome.cornelia de lange syndrome Foundation, Inc. NHIC Home Page
    http://www.health.gov/NHIC/NHICScripts/Hitlist.cfm?Keyword=Cornelia de Lange Syn

    18. EMedicine - Cornelia De Lange Syndrome : Article By Mustafa Tekin, MD
    cornelia de lange syndrome cornelia de lange syndrome (CDLS) is a multiple congenitalanomaly syndrome characterized by a distinctive facial appearance
    http://www.emedicine.com/PED/topic482.htm
    (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease
    Cornelia De Lange Syndrome
    Last Updated: March 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CDLS, Brachmann-de Lange syndrome, de Lange syndrome, Amsterdam syndrome, typus degenerativus amstelodamensis, growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, upper extremity malformation, characteristic facies AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography
    Author: Mustafa Tekin, MD , Assistant Professor of Pediatrics and Genetics, Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Turkey Coauthor(s): Joann Bodurtha, MD, MPH , Associate Chairman, Associate Professor, Department of Human Genetics, Medical College of Virginia Mustafa Tekin, MD, is a member of the following medical societies:

    19. EMedicine - De Lange Syndrome : Article Excerpt By: Krystyna H Chrzanowska, MD,
    Synonyms, Key Words, and Related Terms cornelia de lange syndrome, CDL, CDLS, BrachmanndeLange syndrome, BDLS, typus degenerativus amstelodamensis, multiple
    http://www.emedicine.com/derm/byname/de-lange-syndrome.htm
    (advertisement)
    Excerpt from de Lange Syndrome
    Synonyms, Key Words, and Related Terms: Cornelia de Lange syndrome, CDL, CDLS, Brachmann-de Lange syndrome, BDLS, typus degenerativus amstelodamensis, multiple congenital anomaly/mental retardation, MCA/MR, MIM 122470, malformation syndrome
    Please click here to view the full topic text: de Lange Syndrome
    Background: de Lange syndrome is a relatively common multiple congenital anomaly/mental retardation (MCA/MR) disorder of unknown cause. It is entry 122470 in the Online Mendelian Inheritance in Man (OMIM) database. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. In 1916, Brachmann reported the first case in the literature describing a child at autopsy with severe growth retardation, hirsutism, and an additional finding of upper limb deficiencies. In 1933, Cornelia de Lange described 2 unrelated infant girls with mental retardation and similar dysmorphic features under the designation typus degenerativus amstelodamensis. de Lange suggested that these manifestations comprised a new malformation syndrome. Because of their contribution, both Brachmann's and de Lange's names have been attached to the syndrome, Brachmann-de Lange syndrome (BDLS). Several hundred cases have been reported. Consensus among clinical geneticists on phenotypic dichotomy with classic and mild cases was reached at the 12th Annual DW Smith Workshop on Malformations and Morphogenesis in 1991.

    20. Cornelia De Lange Syndrome - Description And Links
    What is cornelia de lange syndrome (CdLS)? Further information is availablefrom The cornelia de lange syndrome Foundation, Inc.
    http://www.isn.net/~jypsy/corndl.htm
    What is Cornelia de Lange Syndrome (CdLS)? "Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems related by the patient) recognizable by a doctor's exam. Although individuals with the syndrome may not have all of the signs and symptoms, they will have enough to be considered "diagnostic." Individual signs and symptoms may be seen in people without the syndrome. In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, described two children with similar features. She is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name. The syndrome is sometimes referred to as Brachmann-de Lange Syndrome, after Dr. W. Brachmann who described a similar patient in 1916. How can CdLS be recognized? As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (usually, but not always, under five pounds), delayed growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips. Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

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