LYMPHEDEMA NOONAN

LYMPHEDEMA NOONAN'S SYNDROME

NOONAN SYNDROME

This page has been updated and repalced, for current information please see:

Noonan's Syndrome

http://www.lymphedemapeople.com/wiki/doku.php?id=noonan_s_syndrome

May 20, 2008

====================

NOONAN'S SYNDROME

A familial condition similar to both Turner Syndrome. It is different however, in that here is no chromosomal defect as is involved with Turner and unlike Noonan's, this condition can affect both sexes.

Though an early description of the syndrome is credited to a Russian medical student, Koblinsky, at the Russian/Estonian University at Dorpat, the condition is named after an American cardiologist, Jacquline A. Noonan. She and pediatrician Dorothy Ehmke conducted an extensive clinical study of 833 children with congenital heart disease. Their findings were published and reported to the Midwest Society of Pediatric Research held in Cincinnati in 1962.

Cardiac abnormalities occur in 50% of patients: these include pulmonary valve stenosis, thick and dysplastic pulmonary valves, right heart anomalies and left ventricular cardiomyopathy.

Symptoms of the disorder include not only heart indications but valvular pulmonary stenosis, short stature, hypertelorism and skeletal anomalies, and, in boys, retentio testis.

Skin manifestations present as transient lymphedema, in the dorsal hands during infancy and progresses to stasis in adulthood. Scalp findings include low posterior neck hairline and coarse curly hair. Scanty pubic, axillary, and beard hair growth has been noted. Nails show short and wide dystrophic changes.

-------------

Noonan Syndrome

Author: Jennifer Ibrahim, MD, Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine

Coauthor(s): Margaret McGovern, MD, PhD, Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine

http://www.emedicine.com/PED/topic1616.htm

-------------

The Noonan Syndrome Support Group

http://www.noonansyndrome.org/

-------------

Noonan Syndrome

National Organizations for Rare Disorders

Synonyms of Noonan Syndrome

Female Pseudo-Turner Syndrome
Male Turner Syndrome
NS
Turner Phenotype with Normal Chromosomes (Karyotype)

Disorder Subdivisions

General Discussion
Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). The disorder may be characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low hairline in the back of the head; and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings.

In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity).

Organizations related to Noonan Syndrome

American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: inquire@heart.org
Home page: http://www.americanheart.org
Big Hearts for Little Hearts
365 Willis Avenue
Mineola NY 11501
Phone #: 516-741-5522
800 #: --
e-mail: N/A
Home page: N/A
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly NJ 07670
Phone #: 201-227-8852
800 #: --
e-mail: info@childrenscardiomyopathy.org
Home page: http://www.childrenscardiomyopathy.org
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: chaser@compuserve.com
Home page: http://www.csun.edu/~hfmth006/chaser
Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
Noonan Syndrome Support Group, Inc.
P.O. Box 145
Upperco MD 21155
Phone #: 410-374-5245
800 #: 888-686-2224
e-mail: wanda@noonansyndrome.org
Home page: http://www.noonansyndrome.org
Restricted Growth Association
P.O. Box 4744
Dorset Intl DT2 9FA
Phone #: 013-08 -898445
800 #: --
e-mail: rga1@talk21.com
Home page: http://www.rgaonline.org.uk
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Noonan%20Syndrome

-------------

Noonan syndrome

Alternative names

Turner-like syndrome of males

Definition

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome.

Causes, incidence, and risk factors

Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome.

Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease (especially pulmonic stenosis). Because these abnormalities resemble those of Turner syndrome (which only affects females), Noonan syndrome used to be called "male Turner syndrome," this term is no longer used because Noonan syndrome can affect females also.

Facial abnormalities may include low-set or abnormally shaped ears, sagging eyelids (ptosis), wide-set eyes (hypertelorism), epicanthal folds, and a small jaw (micrognathia). Mild mental retardation is present in about 25% of cases. Hearing loss varies. Puberty is usually delayed, and males may have undescended testicles and a small penis. Adult height is usually decreased.

Symptoms

webbed and short appearing neck
sternum abnormalities (pectus excavatum, occasionally pectus carinatum)
sagging eyelids (ptosis)
wide-set (hypertelorism) or down-slanting eyes
low-set or abnormally shaped ears
undescended testicles
delayed puberty
mental retardation in only a quarter of patients
short stature
small penis

Signs and tests

Examination may show an extra fold of skin above the eyes (epicanthal folds). The eyes may also appear down-slanted (antimongoloid palpebral slant). The arms may be held at an unusual angle (cubitus valgus). There may be signs of congenital heart disease (often pulmonic stenosis, occasionally ASD). There may be a bleeding tendency revealed by low platelet count or coagulation tests and measuring the levels of specific coagulation factors in the blood (factors XI-XIII).

Testing will depend on the symptoms present. For example, if there are signs of heart disease, an ECG, chest X-ray or echocardiogram may be recommended. Hearing tests are indicated if there is any sign of decreased hearing.

Genetic testing has two purposes. First, a karyotype analysis can make sure that no easily detected abnormality of chromosomes can be mistaken for Noonan syndrome. Second, research genetic testing for mutations in the PTPN11 gene may be available.

Treatment

There is no single treatment for Noonan syndrome. Treatment focuses on the problems that occur. Growth hormone has been used successfully in Noonan syndrome to treat short stature.

Support Groups

The Noonan Syndrome Support Group, Inc. 888-686-2224; www.noonansyndrome.org

Expectations (prognosis)

The expected outcome depends on the extent and severity of symptoms that are present. Patients can lead normal lives. Mental retardation, if present, is usually mild.

Complications

low self-esteem
social difficulties related to physical abnormalities
male infertility in those with both testes undescended
abnormal heart structure
accumulation of fluid in tissues of body (lymphedema, cystic hygroma)
failure to thrive in infants
short stature

Calling your health care provider Return to top

This condition may be detected on early infant examinations. Evaluation by an experienced geneticist is often needed to determine a diagnosis of Noonan syndrome. If there are any signs of Noonan or Turner syndrome ask your health care provider for the name of a geneticist to see. Genetic counseling is recommended if you have a family history of Noonan syndrome.

Prevention Return to top

People with a family history of Noonan syndrome may want to consult with their health care provider before having children, although at this time there are no tests to detect the tendency for this disorder. Prevention of complications, such as heart disease, depends on early detection and continuing care of a cardiologist.

Update Date: 8/6/2003

http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm

-------------

Noonan's syndrome

http://www.whonamedit.com/synd.cfm/1920.html

-------------

Noonan's Syndrome

http://www.birthdefects.co.uk/bdf_may01/pages/services/noonan_1.htm

-------------

Noonan's Syndrome

http://www.med.wayne.edu/dermatology/MichDerm%20Online%202002/27Spitz%20nevus%20and%20Noonan.htm

=========

Join us as we work for lymphedema patients everywehere:

Advocates for Lymphedema

Dedicated to be an advocacy group for lymphedema patients. Working towards education, legal reform, changing insurance practices, promoting research, reaching for a cure.

http://health.groups.yahoo.com/group/AdvocatesforLymphedema/

Subscribe:

AdvocatesforLymphedema-subscribe@yahoogroups.com

Pat O'Connor

Lymphedema People / Advocates for Lymphedema

=========

For information about Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema\

For Information about Lymphedema Complications

http://www.lymphedemapeople.com/wiki/doku.php?id=complications_of_lymphedema

For Lymphedema Personal Stories

http://www.lymphedemapeople.com/phpBB2/viewforum.php?f=3

For information about How to Treat a Lymphedema Wound

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound

For information about Lymphedema Treatment

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment

For information about Exercises for Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema

For information on Infections Associated with Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema

For information on Lymphedema in Children

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

=========

Lymphedema People - Support Groups

----------------

Children with Lymphedema

The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.

http://health.groups.yahoo.com/group/childrenwithlymphedema/

Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com

......................

Lipedema Lipodema Lipoedema

No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.

Come join, be a part of the family!

http://health.groups.yahoo.com/group/lipedema_lipodema_lipoedema/?yguid=209645515

Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com

......................

MEN WITH LYMPHEDEMA

If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.

http://health.groups.yahoo.com/group/menwithlymphedema/

Subscribe: menwithlymphedema-subscribe@yahoogroups.com

......................

All About Lymphangiectasia

Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.

http://health.groups.yahoo.com/group/allaboutlymphangiectasia/

Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com

......................

Lymphatic Disorders Support Group @ Yahoo Groups

While we have a number of support groups for lymphedema... there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.

DISCRIPTION

Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa
syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.

http://health.groups.yahoo.com/group/lymphaticdisorders/

Subscribe: lymphaticdisorders-subscribe@yahoogroups.com

......................

All About Lymphedema

For our Google fans, we have just created this online support group in Google Groups:

Homepage: http://groups-beta.google.com/group/All-About-Lymphedema

Group email: All-About-Lymphedema@googlegroups.com

......................

Lymphedema Friends

http://groups.aol.com/lymphedemafriend

If you an AOL fan and looking for a support group in AOL Groups, come and join us there.

==========

Lymphedema People New Wiki Pages

Have you seen our new “Wiki” pages yet? Listed below are just a sample of the more than 140 pages now listed in our Wiki section. We are also working on hundred more. Come and take a stroll!

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema

Arm Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=arm_lymphedema

Leg Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=leg_lymphedema

Acute Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=acute_lymphedema

The Lymphedema Diet

http://www.lymphedemapeople.com/wiki/doku.php?id=the_lymphedema_diet