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Cornelia De Lange Syndrome: more detail

Cornelia de Lange Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-20
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
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
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
Cornelia de Lange Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
Love Ella: a mother's story of her daughter with Cornelia de Lange Syndrome by Madeleine Witham, 2006

lists with details

CdLS USA Foundation: Cornelia De Lange Syndrome
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/

Extractions: Cornelia de Lange Syndrome Welcome to the official web site of the CdLS-USA Foundation. We hope the information on this site will shed light on any questions you may have about Cornelia de Lange Syndrome and this Foundation. The CdLS Foundation is a family support organization which exists to reach out, provide help and offer hope to everyone touched by this genetic condition. Our primary purpose is to offer support on a personal basis and we encourage you to let us know how we can help you and the person in your life with CdLS. Please join us and support our mission of Reaching out, Providing help and Giving hope to everyone touched by CdLS. Did you know that you can schedule your CdLS Awareness Activity or CdLS Gathering online? The online forms are accessible via the link below: NEWS
CORNELIA DE LANGE SYNDROME : Contact A Family - For Families With Disabled Child
A description of cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis.
http://www.cafamily.org.uk/Direct/c72.html

Extractions: helpful? yes no 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
NORD - National Organization For Rare Disorders, Inc.
Offers the synonyms, a general discussion and further resources.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cornelia de L
Cornelia De Lange Syndrome - Description And Links
and Linkscornelia de lange syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
CdLS USA Foundation: Facts About CdLS
Why is it called cornelia de lange syndrome (CdLS)? How many people have CdLS?Is life expectancy known? Is mental retardation always present?
http://www.cdlsusa.org/about_cdls/faq.html

Extractions: If my child has CdLS, what can I expect? "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 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. 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.
Cornelia De Lange Syndrome / Family Village Library
cornelia de lange syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Cornelia De Lange Syndrome
Article describes cornelia de lange syndrome, its diagnosis, and treatment.
http://rarediseases.about.com/cs/cdls/a/101903.htm

Extractions: var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on CDLS','http://rarediseases.about.com/cs/cdls'); var zIoa2 = new Array('Elsewhere on the Web','CdLS-USA Foundation','http://www.cdlsusa.org'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases C - D Rare Diseases: C Cornelia de Lange Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! Suggested Reading Internet links on CDLS Elsewhere on the Web CdLS-USA Foundation Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') From Mary Kugler
Education Protocol For Cornelia De Lange Syndrome
Education Protocol for cornelia de lange syndrome. Mary T. Morse, Ph.D., Special Education Consultant, Pembroke, New Hampshire
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Gene For Cornelia De Lange Syndrome Identified
A group of researchers funded by the National Institute of Child Health and HumanDevelopment (US). has discovered a gene for cornelia de lange syndrome.
http://rarediseases.about.com/b/a/089795.htm

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! A group of researchers funded by the National Institute of Child Health and Human Development (U.S.). has discovered a gene for Cornelia de Lange syndrome . The syndrome has many symptoms, including mental retardation, behavior issues, impaired growth, hearing loss, and physical abnormalities. The gene for Cornelia de Lange syndrome is located on chromosome 5, and researchers expect this information will lead to development of a genetic test for the disorder.
Cornelia De Lange Syndrome
About the author's daughter who has cornelia de lange syndrome. Information on CdLS, updates on Jessica's progress and support links.
http://www.geocities.com/Heartland/Meadows/8874

Extractions: 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
CORNELIA DE LANGE SYNDROME Contact A Family - For Families With
A description of cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
EMedicine - Cornelia De Lange Syndrome : Article By Mustafa Tekin, MD
cornelia de lange syndrome cornelia de lange syndrome (CDLS) is a multiplecongenital anomaly syndrome characterized by a distinctive facial appearance,
http://www.emedicine.com/ped/topic482.htm

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease 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:
Cornelia De Lange Syndrome
Jessica was born in September 1996 and was diagnosed with cornelia de lange syndrome (CdLS) at two months of age.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
CdLS USA Foundation Cornelia De Lange Syndrome
The cornelia de lange syndrome (CdLS) Foundation is a nonprofit 501 (c) (3) voluntary health organization based in Avon, Connecticut (USA). The
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Special Child: Disorder Zone Archives - Cornelia De Lange Syndrome
cornelia de lange syndrome (CdLS) is a disorder that results in several physicaland developmental abnormalities. The cause of CdLS is unknown at this time,
http://www.specialchild.com/archives/dz-010.html

Extractions: 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
Cornelia De Lange Syndrome
Article describes cornelia de lange syndrome, its diagnosis, and treatment.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Cornelia De Lange Syndrome / Family Village Library
The cornelia de lange syndrome Foundation is a family support organization whichexists to reach out, provide help and offer hope to everyone touched by
http://www.familyvillage.wisc.edu/lib_cdls.htm

Extractions: Web: http://www.cdlsusa.org/ The Cornelia de Lange Syndrome Foundation is a family support organization which exists to reach out, provide help and offer hope to everyone touched by this genetic condition. Our primary purpose is to offer support on a personal basis and we encourage you to let us know how we can help you and the person in your life with CdLS. CDLS-KIDS
BBC NEWS Scotland Death Probe Critical Of Hospital
Court was told that Simon, of Cowdenhill Road, Knightswood, had been born with a rare genetic condition called cornelia de lange syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Cleft And Craniofacial Anomalies: Cornelia De Lange Syndrome
cornelia de lange syndrome, however, is associated with other features that can Children with cornelia de lange syndrome do not necessarily have all of
http://www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/cornelia.h

Extractions: Employment Cornelia de Lange Syndrome is also sometimes referred to as CdLs for short or Brachman-de Lange Syndrome. What does Cornelia de Lange Syndrome mean for a child? Cornelia de Lange Syndrome is diagnosed by clinical features. Children with this Syndrome often have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Their hairline may be lower than other family members, and they may have more body hair. These features are often less obvious in males after puberty. Children are often shorter than others in the family. None of these features may cause a problem for the person concerned; they are just clues for a diagnosis. Cornelia de Lange Syndrome, however, is associated with other features that can cause problems. Children with Cornelia de Lange Syndrome do not necessarily have all of these problems and the severity of the problems does vary. Children with CdLs may have gastrointestinal tract difficulties. These can include vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention. The gastrointestinal symptoms range from mild to severe.
Cornelia De Lange Syndrome (CdLS) Cornelia De Lange
cornelia de lange syndrome (CdLS) cornelia de lange syndrome CdLS Amsterdam Dwarf Syndrome de Lange Brachmannde Lange Syndrome BDLS de Lange
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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