Trisomy 21
Trisomy 21 more commonly known Down Syndrome, is a condition with possible lymphatic dysplasia involved and thus will present with lymphedema.
The lymphedema treatment program would include: Manual lymphatic drainage; compression wraps or compression bandages (using short stretch bandages), compression garments, compression sleeves.
June 23, 2008
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Trisomy 21
Alternative names
Trisomy 21, Down SyndromeDefinition
Down syndrome is a chromosome abnormality, usually due to an extra copy of the 21st chromosome. This syndrome usually, although not always, results in mental retardation and other conditions.Causes, incidence, and risk factors
In most cases, Down syndrome is caused by an extra chromosome 21. It is the most common single cause of human birth defects, with an occurence in 1 out of every 660 births.
Children with
Down syndrome have a widely recognized characteristic
appearance. The head may be smaller than normal (microcephaly) and
abnormally
shaped. Prominent facial features include a flattened nose, protruding
tongue,
and upward slanting eyes. The inner corner of the eyes may have a
rounded fold
of skin (epicanthal fold) rather than coming to a point. The hands are
short and
broad with short fingers and often have a single crease in the palm
(simian
crease). Retardation of normal growth and development is typical and
most
affected children never reach average adult height.
Congenital heart defects are frequently present in Down syndrome
children. Early
mortality is often a result of cardiac abnormalities. Gastrointestinal
abnormalities such as esophageal
atresia (obstruction of the esophagus) and duodenal atresia
(obstruction of
the duodenum) are also relatively common. Obstruction of the
gastrointestinal
tract may require major surgery shortly after birth. Children with Down
syndrome
also have a higher than average incidence of acute
lymphocytic leukemia (ALL).
Symptoms
Signs and tests
A heart murmur may be revealed by listening to the chest with a stethoscope. Characteristic abnormalities are revealed by a physical examination. These include a flattened facial profile, small ears, separation of the abdominal muscles, joint hyperflexibility, awkward gait, extra skin on back of neck at birth, and an abnormal bone in the middle of the 5th finger.
Early and massive vomiting may indicate obstruction of the esophagus or duodenum and less often lower segments of the gastrointestinal tract. This is sometimes discovered by inability at birth to pass a tube from the nose into the stomach or duodenum as well as by special x-rays.
Tests include:
Treatment
There is no specific treatment for Down syndrome. Special education and training is offered in most communities for mentally handicapped children. Specific heart defects may require surgical correction. The potential for visual problems, hearing loss, and increased susceptibility to infection will require screening and treatment at appropriate intervals.Support Groups
National Down Syndrome CongressExpectations (prognosis)
The normal life span is shortened in Down syndrome by congenital heart disease and by increased incidence of acute leukemia. Mental retardation is variable although usually of moderate severity. Some adults live independently and are accomplished individuals.Complications
There is a risk that uninformed people may assume a Down syndrome child is more retarded than he or she is.
Calling your health care provider
A geneticist should be consulted to help determine the diagnosis and interpret rare chromosomal translocation cases of Down syndrome.
The health care provider should be consulted to evaluate the child for the need for special education and training. The need for follow-up of physical problems varies.
Prevention
Genetic counseling is recommended in all families with Down syndrome. Down syndrome can be detected in a fetus in the first few months of pregnancy by examination of the chromosomes obtained by amniocentesis or chorionic villus sampling. The parents of a child with Down syndrome are at increased risk for having another child with Down syndrome. Mothers who become pregnant after age 40 are also at increased risk for having a child with Down syndrome.
Update Date: 8/19/2003Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
................................
Directory of Down Syndrome Sites
................................
National Down Syndrome Society
................................
Down Syndrome: Health Issues
The formal story began in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids."
Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" in the UK and some places in Europe.
In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s. But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism (see definitions of these below) were described over the next three years.
The ChromosomesChromosomes are thread-like structures composed of DNA and other proteins. They are present in every cell of the body and carry the genetic information needed for that cell to develop. Genes, which are units of information, are "encoded" in the DNA. Human cells normally have 46 chromosomes which can be arranged in 23 pairs. Of these 23, 22 are alike in males and females; these are called the "autosomes." The 23rd pair are the sex chromosomes ('X' and 'Y'). Each member of a pair of chromosomes carries the same information, in that the same genes are in the same spots on the chromosome. However, variations of that gene ("alleles") may be present. (Example: the genetic information for eye color is a "gene;" the variations for blue, green, etc. are the "alleles.") Human cells divide in two ways. The first is ordinary cell division ("mitosis"), by which the body grows. In this method, one cell becomes two cells which have the exact same number and type of chromosomes as the parent cell. The second method of cell division occurs in the ovaries and testicles ("meiosis") and consists of one cell splitting into two, with the resulting cells having half the number of chromosomes of the parent cell. So, normal eggs and sperm cells only have 23 chromosomes instead of 46. |
|||
|
Many errors can occur during cell division. In meiosis, the pairs of chromosomes are supposed to split up and go to different spots in the dividing cell; this event is called "disjunction." However, occasionally one pair doesn't divide, and the whole pair goes to one spot. This means that in the resulting cells, one will have 24 chromosomes and the other will have 22 chromosomes. This accident is called "nondisjunction." If a sperm or egg with an abnormal number of chromosomes merges with a normal mate, the resulting fertilized egg will have an abnormal number of chromosomes. In Down syndrome, 95% of all cases are caused by this event: one cell has two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. Recent research has shown that in these cases, approximately 90% of the abnormal cells are the eggs. The cause of the nondisjunction error isn't known, but there is definitely connection with maternal age. Research is currently aimed at trying to determine the cause and timing of the nondisjunction event.
| Here's
the karyotype of a male with trisomy 21: |
 |
Three to four percent of all cases of trisomy 21 are due to Robertsonian Translocation. In this case, two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material. Some of these children may only have triplication of part of the 21st chromosome instead of the whole chromosome, which is called a partial trisomy 21. Translocations resulting in trisomy 21 may be inherited, so it's important to check the chromosomes of the parents in these cases to see if either may be a "carrier."
The remainder of cases of trisomy 21 are due to mosaicism. These people have a mixture of cell lines, some of which have a normal set of chromosomes and others which have trisomy 21. In cellular mosaicism, the mixture is seen in different cells of the same type. In tissue mosaicism, one set of cells, such as all blood cells, may have normal chromosomes, and another type, such as all skin cells, may have trisomy 21.
The chromosomes are holders of the genes, those bits of DNA that direct the production of a wide array of materials the body needs. This direction by the gene is called the gene's "expression." In trisomy 21, the presence of an extra set of genes leads to overexpression of the involved genes, leading to increased production of certain products. For most genes, their overexpression has little effect due to the body's regulating mechanisms of genes and their products. But the genes that cause Down syndrome appear to be exceptions.
Which genes are involved? That's been the question researchers have asked ever since the third 21st chromosome was found. From years of research, one popular theory stated that only a small portion of the 21st chromosome actually needed to be triplicated to get the effects seen in Down syndrome; this was called the Down Syndrome Critical Region. However, this region is not one small isolated spot, but most likely several areas that are not necessarily side by side. The 21st chromosome may actually hold 200 to 250 genes (being the smallest chromosome in the body in terms of total number of genes); but it's estimated that only a small percentage of those may eventually be involved in producing the features of Down syndrome. Right now, the question of which genes do what is highly speculative. However, there are some suspects.
Genes that may have input into Down syndrome include:
Other genes that are also suspects include APP, GLUR5, S100B, TAM, PFKL, and a few others. Again, it is important to note that no gene has yet been fully linked to any feature associated with Down syndrome.
Other genes that are also suspects include APP, GLUR5, S100B, TAM, PFKL, and a few others. Again, it is important to note that no gene has yet been fully linked to any feature associated with Down syndrome.
One of the more notable aspects of Down syndrome is the wide variety of features and characteristics of people with trisomy 21: There is a wide range of mental retardation and developmental delay noted among children with Down syndrome. Some babies are born with heart defects and others aren't. Some children have associated illnesses such as epilepsy, hypothyroidism or celiac disease, and others don't. The first possible reason is the difference in the genes that are triplicated. As I mentioned above, genes can come in different alternate forms, called "alleles." The effect of overexpression of genes may depend on which allele is present in the person with trisomy 21. The second reason that might be involved is called "penetrance." If one allele causes a condition to be present in some people but not others, that is called "variable penetrance," and that appears to be what happens with trisomy 21: the alleles don't do the same thing to every person who has it. Both reasons may be why there is such variation in children and adults with Down syndrome.
Researchers are busy in their attempts to map out the full structure of the chromosome, including the Human Genome Database. Because of the small size of the 21st chromosome and its association with Down syndrome, it is the second-most heavily mapped human chromosome. Research is focusing on trying to identify genes and their effects when overexpressed.
However, it would be a mistake to assume that the clinical features of Down syndrome are only due to a handful of genes being overexpressed. You can think of the overexpressed gene products interacting with a number of normal gene products, each product individualized by the person's unique genetic makeup, and thus being thrown "out of genetic balance." This would then make the person more susceptible to other genetic and environmental insults, leading to the features, diseases and conditions associated with Down syndrome. It is this complex arrangement that scientists will be addressing in the second century of Down syndrome research.
http://www.ds-health.com/trisomy.htm
........................
National Down Syndrome
Congress
National Down Syndrome
Society
International Mosaic Down
Syndrome Assoc.
Down
Syndrome Information Network
Down Syndrome Educational
Trust
Mosaic Down
Syndrome on the Web
Downscity Homepage
Northeast:
Aim High!
(Albany, NY)
Bringing Up Down Syndrome
(Southern NJ)
Bucks County DS Interest Group
(PA)
Connecticut Down
Syndrome Congress
Down Syndrome
Group of Western PA
Down Syndrome Parent
Network of Eastern PA
Down Syndrome
Parent Support Group of
Genesee County (NY)
Down Syndrome Society of
Rhode Island
Down Syndrome Assoc.
of Delaware
Hudson Valley Down Syndrome Assoc.
(NY)
KIIDS
(Southern New Jersey)
Massachusetts DS Congress
Network 21
(Central NJ)
PODS - Montgomery
County (Maryland)
Southern
Maine DS Family Network
Trisomy 21 of
Northern NY
Southeast:
DS Assoc.
of Atlanta
Down Syndrome
Assoc. of Fredericksburg, VA
Down Syndrome Assoc. of
Hampton Roads (SE
Virginia)
Down Syndrome
Association of the
Lowcountry Charleston, SC
Down Syndrome Assoc.
of Memphis and
Mid-South
Down Syndrome Assoc.of
Middle Tennessee
Down Syndrome Assoc. of New Orleans
Down Syndrome Assoc. of
Northern Virginia
DS Family and Friends (Little Rock, AR)
Down
Syndrome of Louisville,
KY
Gold Coast DS
Org. of Broward
County, FL
Gold Coast
Org. of Palm
Beach County, FL
Piedmont DS Support Network
(N Carolina)
PODS Angels Support
Group in Fort
Lauderdale, FL
Triangle
Down Syndrome
Network (N Carolina)
Up With Downs
(Shreveport, LA)
PC Downies (Panama City, FL)
Down Syndrome
Assoc. of Roanoke, Virgina
Middle:
Down Syndrome Assoc. of
Central Ohio
Down Syndrome Assoc. of
Central Oklahoma
Down Syndrome Assoc. of
Greater Cincinnati
Down Syndrome Assoc. of
Greater St. Louis
Down Syndrome Association
of Minnesota
Down Syndrome Assoc. of
Northern Indiana
Down Syndrome Assoc. of
West Michigan
Down Syndrome Assoc. of
Wisconsin
Down
Syndrome
Development Counsel (N. Ill.)
F.E.D.S.
(Sterling
Heights, Mich)
Indiana DS Foundation
(Indianapolis)
Kansas City Down Syndrome
Guild Assoc.
Miami Valley Down Syndrome
Assoc. (Dayton,
OH)
National Assoc. for Down
Syndrome (Chicago)
NDSS Nebraska
(Omaha)
Oshkosh Down
Syndrome Parent Support Group
Riverbend Down
Syndrome Parent Support Group (SW Illinois)
SW Chicago Suburban
Support Group
The Up Side of
Downs of Greater Cleveland
Up With Down
(Des Moines)
Wichita Downs
Support Group
West & Southwest:
Down Syndrome Assoc. of
Houston
Down Syndrome Assoc. of
Los Angeles
Down Syndrome Association
of Orange County
(Cal.)
Down Syndrome
Connection of Tucson
Down
Syndrome Exchange,
Southern Cal.
Down Syndrome
Guild of Dallas
Down Syndrome Group of
Salt Lake City
Down Syndrome League of
the Greater Bay Area
DS Network
(Phoenix, AZ)
Down Syndrome Organization
of Southern Nevada
Down Syndrome
Partnership of Tarrant
County (Ft. Worth)
Down
Syndrome Support Group of
the High Desert
Down
Syndrome Assoc
of Ventura County (Cal.)
Sharing Down Syndrome
Arizona
Southern Arizona Network
for DS
Rocky Mountain/Northwest:
Colorado Springs Down
Syndrome Assoc.
Down
Syndrome Outreach of
Whatcom County (Wash.)
Mile High Down Syndrome
Assoc. (Denver area)
Upside!
(Wash.)
Utah Down Syndrome
Foundation
Intercontinental US:
Hawaii Down
Syndrome Congress
Alaska
Chapter of the NDSC
Argentina:
Asociacion
Down de Avellaneda
Asociación Síndrome
de Down de la República Argentina
Australia:
DS Society of
South Australia
DS Assoc. of
New South Wales
DS Assoc. of
Victoria
DS Assoc. of
Western Australia
Australian
Capital Territory DS Assoc.
DS Assoc. of
Queensland
Austria: Infoplattform
Down-Syndrom Österreich
Bahrain: Bahrain Down
Syndrome Society
Brazil: Fundacao
Sindrome de Down
Canada:
Calgary DS
Assoc.
Canadian Down
Syndrome Society
DS Assoc. of
Metropolitan Toronto
Down Syndrome Research
Foundation and Resource Centre
Manitoba
DS Society Home Page
Newfoundland
and Labrador DS Society
Assoc.
du Syndrome de Down de L'estrie (Quebec)
Czech Republic: Spolecnost
Downova syndromu
Denmark:
Forældre
til mongolbørn i København
Landsforening
Downs Syndrom
Ecuador: Frutos-Integral
Attention Center
Egypt: European
Down Syndrome
Assoc. (EDSA)
Finland: Downin
oireyhtymä
France: F.A.I.T
21 et G.E.I.S.T 21
Germany:
Down
syndrome network Germany
Deutschen
Down-Syndrom InfoCenter
Honduras: Down
Syndrome Foundation
Hong Kong: Down
Syndrome Association
Iceland: Félag áhugafólks
um Downs-heilkenni
India: Down's
Syndrome Federation of
India
Ireland:
Down
Syndrome Ireland - Main branch
Down
Syndrome Ireland - Mayo Branch
Italy:
L'Associazione
Italiana Persone Down
Associazione
Genitori Bambini Down
Centro
Bresciano Down
Pordenone
DS Assoc. (English)
CE.N.TR.O.
21 -- Bologna
Sindrome di
Down
Japan: Japan
Down Syndrome Network (English version)
Luxembourg: Trisomie
21 Lëtzebuerg a.s.b.l.
(in French and German)
Malta: Down Syndrome Assoc. of Malta
Maylasia: Kiwanis Down
Syndrome Centre under
construction
Mexico:
Resources
in Mexico
Instituto
Irapuatense Down, A.C.
Netherlands: Stichting
Down's Syndroom
New Zealand: New Zealand DS
Assoc.
Nigeria: Down
Syndrome Association of
Nigeria
Norway:
Downsnett
Norge
Marihøna
Phillipines:Down
Syndrome Assoc. of the
Philippines
Puerto Rico: Fundación
Síndrome Down
Russia:
Down
Syndrome Assoc. of Russia
Downside Up
(this is a UK charity for Russian children with DS)
Singapore: Singapore
Down
Syndrome Assoc.
Slovakia: Spolocnost'
Downovho syndrómu na
Slovensku
South Africa: Down
Syndrome South
Africa
Spain:
Down 21: Fundación
Síndrome de Down
Fundación
Asindown (Valencia)
Asociacion
Sindrome de Down "Lejeune"
Fundacio Catalana
Sindrome de Down
La
Fundación Síndrome de Down de Cantabria
Sweden:
Downs
Syndrom Sverige
Downs
Syndrom - inte bara en extra kromosom
Switzerland:
EDSA Schweiz
Insieme -
Vereinigung für Kinder mit Down-Syndrom
Association Romande
Trisomie 21
Turkey: Down
sendromu Dayanisma
Grubu
United Kingdom:
UK
Resources for Down Syndrome
UK
Down's Syndrome Assoc.
UK
Mosaic Down Syndrome Assoc.
DS Assoc
of Bristol
Greater
Manchester Branch of the DS Assoc.
Down
Syndrome Liverpool
North
East & Cumbria Branch
Down's
Syndrome Assoc. London Branch
Oxfordshire
Group of the DS Assoc.
Scottish Down's
Syndrome Assoc.
Kingston
Special Needs Project
Inter
Care Residential
Uruguay: La
Asociacion Down del Uruguay
Other International, non-internet resources indexed at:
http://www.nas.com/downsyn/org.html
Down Syndrome Quarterly
(a
multi-disciplinary journal)
Disability
Solutions
Down
Syndrome Amongst
Us
Ohrenkuss, a
German magazine by people
with DS
Medical
Descriptions of DS
A
description of Down Syndrome
characteristics by Dr. Siegfried M. Pueschel
Online
Mendelian Inheritance in Man (OMIM) Page on DS (a medical
description)
General Health Guidelines
Health
Care
Guidelines for People with DS
Spanish
Edition of DSMIG Guidelines
Down Syndrome: Health
Issues, from Dr.
Len Leshin
Genetics of DS
Dr.
Korenberg's Chromosome 21 Phenotype Mapping Project
Online
Mendelian Inheritance in Man (OMIM) Gene Map of chromosome 21
Risk and
Recurrence of Down
Syndrome by Dr. Paul Benke
What
is Mosaic Down
Syndrome? by Carol Strom
Animations
of Meiosis and
Fertilization
Specific Medical Topics in DS
Alzheimer's
in DS by Dr. Ira Lott
Brain and
Tissue Bank for
Developmental Disorders
Center for Motor
Behavior in Down
Syndrome
Dental
Care in Down
Syndrome: A Review of the Literature by Sindoor Desai, DDS
Down
Syndrome &
Autistic-Spectrum Disorder
Down's
Syndrome Vision Research Group (Cardiff Univ., UK)
Down's
Heart Group
Growth Charts for
Children with Down
Syndrome
Hip
Instability in Down
Syndrome by Kim Voss
Menstrual
Management in Down
Syndrome
My
Brother and
Me: about Down Syndrome and Alzheimer's
Breastfeeding
a
Child with Down Syndrome,
Breastfeeding
and Down
Syndrome, by the La Leche organization
Communicating
Partners, Dr. James
McDonald's program
Diagnosis: Down Syndrome
(a collection of
stories for new parents of children with DS)
Down Syndrome - For New
Parents (by The
Paul Family)
Down
Syndrome for Family and Friends
Love and Learn
Tapes for Teaching
Reading
National Down
Syndrome Education and
Research Institute
Parents'
Resource
- For new parents (by the Edwards Family)
Welcome
to Holland, by Emily
P. Kingsley
Welcoming
New Babies, by Pam
Wilson
MetLife's "Division
of Estate
Planning for Special Kids"
Creative
Exchange Music
Therapy
OT Exchange:
a site for pediatric
Occupational Therapists and parents who utilize OTs
The Possible Dream
Foundation
Down Syndrome Research
Online Advocacy Group
The Lindsey Rae Foundation
Trisomy 21
Foundation of Northern
New York
Personal Ponies
for Children with
Disabilities
Annie Forts' Up
Syndrome Fund, Inc.
The Karen
Gaffney Foundation
Foundation 21 (Australia)
Camphill Soltane -
Pennsylvania
Pathfinder
Village - New York
Green Oaks School -
Arlington, TX
Down Home Ranch -
Austin, TX
===========================
Abstracts and Studies:
Trisomy Disorders - Sponsored b y Lymphedema People
http://trisomydisorders.wordpress.com/
===========================Codes and Classifications:
ICD-10 - Q90
ICD-9
eMedicine ped/615
MeSH D004314
MedlinePlus 000997
===========================
===========================
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Infections Associated
with Lymphedema
http://www.lymphedemapeople.com/wiki/doku.php?id=fungal_infections_associated_with_lymphedema
Lymphedema
in Children
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children
Lymphoscintigraphy
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphoscintigraphy
Magnetic
Resonance Imaging
http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging
Extraperitoneal
para-aortic lymph node dissection (EPLND)
Axillary
node biopsy
http://www.lymphedemapeople.com/wiki/doku.php?id=axillary_node_biopsy
Sentinel
Node Biopsy
http://www.lymphedemapeople.com/wiki/doku.php?id=sentinel_node_biopsy
Small
Needle Biopsy - Fine Needle Aspiration
http://www.lymphedemapeople.com/wiki/doku.php?id=small_needle_biopsy
Magnetic
Resonance Imaging
http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging
Lymphedema
Gene FOXC2
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_foxc2
Lymphedema Gene VEGFC
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_vegfc
Lymphedema Gene SOX18
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_sox18
Lymphedema
and
Pregnancy
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pregnancy
Home page: Lymphedema People
http://www.lymphedemapeople.com
Page Updated: Nov. 28, 2011
