LYMPHEDEMA NOONAN'S SYNDROME
NOONAN SYNDROME
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Noonan's Syndrome
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Revised: Dec. 20. 2011
====================
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.
Diagnosis
Individuals who have Noonan syndrome have normal chromosome studies. Four genes - PTPN11, SOS1, RADF1 and KRAS- are the only genes that are known to be associated with Noonan syndrome. Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have mutations in the SOS1. Mutations in the RAF1 gene account for between 10 and 15 percent of Noonan syndrome cases. About 5 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder. The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this disorder is not yet known. (1)
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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
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The Noonan Syndrome Support Group
http://www.noonansyndrome.org/
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Noonan Syndrome
National Organizations for Rare Disorders
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
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
365 Willis Avenue
Mineola NY 11501
Phone #: 516-741-5522
800 #: --
e-mail: N/A
Home page: N/A
PO Box 547
Tenafly NJ 07670
Phone #: 201-227-8852
800 #: --
e-mail: info@childrenscardiomyopathy.org
Home page: http://www.childrenscardiomyopathy.org
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: chaser@compuserve.com
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
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/
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
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
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
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
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
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 malesDefinition
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.
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.orgExpectations (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
Prevention
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
also http://ghr.nlm.nih.gov/condition/noonan-syndrome
-------------Abstracts and Studies------
http://onlinelibrary.wiley.com/doi/10.1002/pbc.23358/abstract
-------------
Noonan S yndrome: Clinical Features, Diagnosis, and Management Guidelines
Key Words: Noonan syndrome; PTPN11; SOS1; BRAF; KRAS; NRAS; RAF1; SHOC2; signal transduction; congenital heart disease, short stature
Noonan syndrome (NS) is a relatively common congenital genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 live births.1 Characteristic findings include distinctive facial features, short stature, chest deformity, and congenital heart disease. It is an autosomal dominant disorder with complete penetrance but variable expressivity. Until recently, diagnosis was based solely on clinical findings, but genetic mutations are identifiable in ∼61% of the patients. Because of the difficulty in establishing a diagnosis of NS, the Noonan Syndrome Support Group coordinated a meeting of health care providers with expertise in various aspects of the disorder with the aim of developing guidelines for its diagnosis and management. This report is the result of those efforts and is intended to provide the pediatrician with key clinical features of NS, to provide an update of currently understood genetic causes, and to present management recommendations
See remainder of article:
http://pediatrics.aappublications.org/content/126/4/746.full
-------------
Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.
Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception. Alterations in four genes - PTPN11, SOS1, RAF1 and KRAS - have been identified to date.
Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people.
See remainder of article: Reference #(1.) National Human Genome Research Institute
http://www.genome.gov/25521674
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168362/?tool=pubmed
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http://www.jstage.jst.go.jp/article/internalmedicine/50/21/50_2611/_article
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Noonan's
syndrome
http://www.whonamedit.com/synd.cfm/1920.html
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Noonan's
Syndrome
http://www.noah-health.org/en/genetic/conditions/noonan.html
-------------
Noonan's Syndrome
http://www.mayoclinic.com/health/noonan-syndrome/DS00857
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