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org/rare-diseases/turner-syndrome

Turner Syndrome

NORD gratefully acknowledges Melissa L. Crenshaw, MD, FACMG, FAAP, Chief, Division of Genetics, Johns
Hopkins All Children's Hospital, and Carolyn A. Bondy, MD, Chief, Section on Epigenetics & Development,
National Institute of Child Health and Human Development, NIH Clinical Center, for assistance in the
preparation of this report.

Synonyms of Turner Syndrome

45,X syndrome
Bonnevie-Ullrich syndrome
monosomy X
Ullrich-Turner syndrome

General Discussion
Summary

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is
characterized by partial or complete loss (monosomy) of one of the second sex
chromosomes. Turner syndrome is highly variable and can differ dramatically from one
person to another. Affected females can potentially develop a wide variety of symptoms,
affecting many different organ systems. Common symptoms include short stature and
premature ovarian failure, which can result in the failure to attain puberty. Most women
with Turner syndrome are infertile. A variety of additional symptoms can occur including
abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney
abnormalities. Intelligence is usually normal, but affected individuals may experience
certain learning disabilities. Turner syndrome may be diagnosed before birth or shortly after
birth or during early childhood. However, in some cases, the disorder may not be diagnosed
until well into adulthood, often as an incidental finding. Most cases do not run in families
and appear to occur randomly for no apparent reason (sporadically).

Introduction

Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to
report on the disorder in the medical literature. Turner syndrome is one of the most
common chromosomal disorders and likely the most common genetic disorder of females.
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Signs & Symptoms
The symptoms and severity of Turner syndrome can be quite variable from one person to
another. Many features of the disorder are nonspecific and others may develop slowly over
time or can be subtle. It is important to note that affected individuals may not have all of the
symptoms discussed below. Affected individuals should talk to their physician and medical
team about their specific case, associated symptoms and overall prognosis.

Almost all females with Turner syndrome exhibit growth failure and attain a final height that
is shorter than average (short stature). Children may initially display normal growth, usually
for the first few years of life. However, in most cases, the growth rate eventually becomes
slower than normal and affected children do not experience normal growth spurts (e.g., no
growth spurt during puberty). If untreated, the final height in Turner syndrome is usually
less than 5 feet.

Another common feature of Turner syndrome is the failure of the ovaries to develop
properly (gonadal dysgenesis). Gonadal dysgenesis can cause the loss of ovarian function
early during childhood (premature ovarian failure). Normally, the ovaries produce sex
hormones (e.g. estrogen and progesterone) at puberty. These hormones are necessary for
the onset of puberty and the proper development of secondary sexual characteristics. Most
affected females will require hormone replacement therapy to develop breasts and normal
female body contours, undergo proper bone growth, and to begin menstruation. In some
cases, affected individuals may begin to undergo breast development and may begin
menstruating without therapy (spontaneous pubertal development), but most will stop
developing sexually and stop menstruating at some later point during their teen-age years.

Intelligence is usually normal in females with Turner syndrome. However, affected females
may develop learning disabilities, especially difficulties with visual-spatial relationships. An
example would be right-left disorientation. Affected individuals may have difficulties with
directional sense, learning math, nonverbal memory and attention. Affected females may
also experience difficulty in certain social situations.

Females with Turner syndrome may develop a variety of distinctive physical features
including a short neck with a webbed appearance, a low hairline at the back of the head,
low-set ears, and narrow fingernails and toenails that are turned upward. A broad chest
with widely spaced nipples may occur, which is sometimes referred to as “shield chest.”
Some individuals may have swollen, puffy hands and feet. These symptoms may occur due
to lymphedema, a condition affecting the lymphatic system. The lymphatic system is a
circulatory network of vessels, ducts and nodes that filter and distribute certain protein-rich
fluid (lymph) and blood cells throughout the body. Lymphedema is characterized by
swelling due to fluid accumulation (edema) in the affected parts of the body.

Additional physical findings may include a receding jaw (retrognathia), crossed eyes
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(strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof of the
mouth (palate). Some individuals may have skeletal malformations including short bones of
the hands, specifically the fourth metacarpals, arms that are turned out at the elbows, and
flat feet (pes planus). In approximately 10% of cases, abnormal sideways curvature of the
spine (scoliosis) may also occur.

Congenital heart defects may be associated with Turner syndrome, especially in individuals
with lymphedema. Such defects may include bicuspid aortic valve, in which the aortic valve
has two flaps (leaflets) instead of three. The aorta is the main artery of the heart. The aortic
valve regulates blood flow from the heart into the aorta. The flaps open and close to allow
the passage of blood. Since there are only two flaps instead of three, the aortic valve does
not function properly. A bicuspid aortic valve may or may not cause clinically apparent
symptoms. Approximately 5-10% of individuals may have a congenital heart defect known as
coarctation of the aorta, a condition characterized by narrowing of the aorta, which causes
the heart to pump harder in order to force blood through constricted area. The condition
can be mild and go undiagnosed until adulthood or be more serious, which can be
associated with a variety of symptoms including pale skin, irritability, heavy sweating and
difficulty breathing. If untreated, severe cases can result in insufficient blood flow to the
organs of the body or eventually progress to congestive heart failure.

The heart defects associated with some cases of Turner syndrome can increase the risk of
severe, life-threatening complications including high blood pressure of the arteries of the
lungs (pulmonary hypertension) or aortic dissection, a condition in which there is a tear in
the inner wall of the aorta. Blood rushes into the middle layer of the aorta causing the
middle and inner layers to separate (dissect). Aortic dissection can potentially cause the
outer wall of the aorta to rupture.

Kidney (renal) abnormalities may occur in some cases including horseshoe kidneys or
absence (agenesis) of a kidney. Kidney abnormalities increase the risk of urinary tract
infections and high blood pressure (hypertension). Liver abnormalities may include a fatty
liver. Some affected individuals may have thyroid disease, which can cause decreased
activity of the thyroid (hypothyroidism). Thyroid disease usually occurs because the immune
system mistakenly attacks thyroid tissue, a condition known as Hashimoto’s syndrome
(autoimmune thyroiditis). Symptoms can vary from one person to another, but can include
fatigue, sluggishness, muscle aches, constipation, a hoarse voice and pale, dry skin.
Some individuals with Turner syndrome may have multiple tiny colored spots (pigmented
nevi) on the skin.

Affected females may also be prone to infections of the middle ear (otitis media), especially
during infancy and early childhood. Chronic otitis media may be associated with hearing
loss due to blockage of sound waves (conductive hearing loss). This hearing loss usually
resolves as a child ages and ear infections become less frequent. Hearing abnormalities in
young children may affect or delay speech development. In adults, hearing loss due to an
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impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural
hearing loss) may occur and may worsen with age.

Certain individuals with Turner syndrome appear to be at greater risk than the general
population for developing certain disorders including diabetes, Celiac disease and
osteoporosis. Osteoporosis is characterized by a general loss of bone density that can lead
to an increased risk of fractures. Gastrointestinal problems including feeding difficulties and
gastroesophageal reflux (GERD) may also occur.

Causes
Turner syndrome is caused by partial or complete loss (monosomy) of the second sex
chromosome. Chromosomes are found in the nucleus of all body cells. They carry the
genetic characteristics of each individual and they come in pairs. We receive one copy from
each parent. Chromosomes are numbered from 1 through 22; the 23rd pair normally
consists of one X and one Y chromosome for males and two X chromosomes for females.
Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes,
including two X chromosomes (46, XX karyotype). Each chromosome has a short arm
designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into
many bands that are numbered.

In females with Turner syndrome, all or a portion of one of the second sex chromosome is
missing. The reason that this occurs is unknown and is believed to result from a random
event. In some cases, the chromosomal abnormality appears to arise spontaneously (de
novo) due to an error in the division of a parent’s reproductive cells, either in the father’s
sperm or the mother’s egg. This results in the genetic error being contained in all cells of the
body.

In many cases, only a certain percentage of an individual’s cell may be affected. This is
referred to as mosaicism. Specifically, some cells have the normal 46 chromosomes (one cell
line) while other cells do not have the normal 46 chromosomes (second cell line). This
second cell line may contain various abnormalities such as partial or complete loss of the X
chromosome. In these cases, the loss of genetic material from the X chromosome usually
occurs because of spontaneous errors very early during fetal development. Theoretically,
individuals with Turner syndrome mosaicism may have fewer developmental problems than
other cases because fewer cells are affected. However, this is difficult to predict. Further
research is necessary to completely understand the complicated factors involved in the
development of the various symptoms associated with Turner syndrome.

In some cases, rarer chromosome abnormalities (other than complete or partial monosomy)
can cause Turner syndrome. Such abnormalities include ring chromosome or
isochromosome X. Ring chromosomes occur when the ends of a chromosome break off and

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the long and short arms join together to form a ring. Isochromosomes occur when one arm
of a chromosome is missing and is replaced by an identical version of the other arm.

In rare cases, some cells have one copy of the X chromosome, while other cells have one
copy of the X chromosome and some Y chromosome material. The amount of Y
chromosome material is not enough to cause the development of any male features, but is
associated with an increased risk of developing a form of cancer known as gonadoblastoma.

Most symptoms of Turner syndrome occur due to the loss of specific genetic material from
one of the X chromosomes. So far, one gene has been conclusively shown to play a role in
the development of Turner syndrome. The SHOX gene encodes a protein that helps to
regulate other genes in the body. The protein product of the SHOX gene plays a role in the
growth and maturation of the skeleton. Researchers believe that the loss of one SHOX gene
on the altered X chromosome is the main cause of short stature in females with Turner
syndrome.

We are learning more about how the genes on the X chromosome are related to Turner
syndrome. The SHOX gene is known to be a major contributor to the development of short
stature and other skeletal findings. The UTX gene may be implicated in potential immune
issues underlying the repeated episodes of otitis media, which are common. Most recently,
the TIMP3 and TIMP1 genes have been identified to be involved in the development of
bicuspid aortic valve and aortic abnormalities found in Turner syndrome.

Researchers believe that additional, as-yet-unidentified genes on the X chromosome play a

role in the development of other symptoms of Turner syndrome. For example, these genes
may encode proteins that are involved in the proper development of the lymphatic and
cardiovascular systems. More research is necessary to identify all of the genes that play a
role in the development of the clinical features of Turner syndrome.

Affected Populations
Turner syndrome affects approximately 1 female in 2,000-2,500 live female births. It is
estimated that more than 70,000 women and girls in the United States have Turner
syndrome. There are no known racial or ethnic factors that influence frequency of the
disorder. In some cases, the disorder is diagnosed before birth or shortly after birth.
However, mild cases can remain undiagnosed until later in life and even during adulthood.

Related Disorders
Symptoms of the following disorders can be similar to those of Turner syndrome.
Comparisons may be useful for a differential diagnosis.

Noonan syndrome is a common genetic disorder that is typically evident at birth

(congenital). The disorder is characterized by a wide spectrum of symptoms and physical
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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
posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities
of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism);
skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper
eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad
base; and low-set, posteriorly 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, learning difficulties or mild
intellectual disability, 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. Noonan
syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations)
in multiple single genes that make up the rasopathy pathway. Some symptoms associated
with Noonan syndrome may superficially resemble those with Turner syndrome (due to
certain findings that may be associated with both disorders, such as short stature, webbed
neck, etc.). Consequently, in the past, Noonan syndrome has been referred to as “male
Turner syndrome,” “female pseudo-Turner syndrome,” or “Turner phenotype with normal
chromosomes karyotype.” However, there are many important differences between the two
disorders. Noonan syndrome affects both males and females, and there is a normal
chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is
characterized by abnormalities affecting the X chromosome. (For more information on this
disorder, choose “Noonan” as your search term in the Rare Disease Database.)

Diagnosis
a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Turner syndrome should be suspected in girls with growth deficiency or short stature of
unknown cause.

A diagnosis of Turner syndrome is often confirmed by chromosomal analysis, which is

usually achieved by determining the karyotype. Karyotyping is a laboratory test that
evaluates the number and structure of chromosomes. Karyotyping can be done on almost
any type of tissue. In most cases, a blood sample is used to ascertain a person’s karyotype.

Turner syndrome is being increasingly diagnosed before birth (prenatally). Screening for
Turner syndrome and other chromosome abnormalities can be performed by noninvasive
testing on a maternal blood sample. Definitive testing can be done by CVS or amniocentesis.

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CVS is performed at 10-12 weeks of pregnancy and involves the removal of tissue samples
from a portion of the placenta, while amniocentesis is performed at 16-18 weeks gestation
and involves taking a small sample of the fluid around the fetus.

In certain cases, certain physical findings associated with Turner syndrome may be seen on
a fetal ultrasound. For example, the accumulation of lymph fluid near the neck of a
developing fetus can sometimes be seen on a routine fetal ultrasound. If prenatal testing
shows a Turner syndrome karyotype but normal ultrasound findings, it can be difficult to
predict the extent to which the baby will develop signs of Turner syndrome after birth.

Clinical Testing and Work-Up

Specific imaging techniques such as magnetic resonance imaging (MRI) may be performed
to assess affected individuals for the presence of symptoms potentially associated with
Turner syndrome such as liver, kidney or heart abnormalities. An MRI uses a magnetic field
and radio waves to produce cross-sectional images of particular organs and bodily tissues.
Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup
to assess the structure and function of the heart. This will include an echocardiogram.

Additional evaluation should be done on thyroid and liver function, bone age, and growth.
Hypertension screening should also be performed. Infants diagnosed at birth should receive
a full ear, nose and throat examination including an auditory exam. Children, especially
those who experience repeated otitis media, as well as adults, require periodic hearing
evaluation. Affected individuals should also undergo thyroid function tests because of the
potential for thyroid disease.

Standard Therapies
Treatment
The treatment of Turner syndrome is directed toward the specific symptoms that are
apparent in each individual. Treatment may require the coordinated efforts of a team of
specialists. Pediatricians, pediatric specialists, surgeons, cardiologists, endocrinologists,
speech pathologists, otolaryngologists, ophthalmologists, psychologists, and other
healthcare professionals may need to systematically and comprehensively plan an affect
child’s treatment. Genetic counseling is recommended for affected individuals and their
families.

Specific therapeutic procedures and interventions may vary, depending upon numerous
factors, such as disease severity; the presence or absence of certain symptoms; an
individual’s age and general health; and/or other elements. Decisions concerning the use of
particular drug regimens and/or other treatments should be made by physicians and other
members of the health care team in careful consultation with the patient based upon the

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specifics of his or her case; a thorough discussion of the potential benefits and risks,
including possible side effects and long-term effects; patient preference; and other
appropriate factors.

There is no cure for Turner syndrome, but therapies have been developed that can improve
physical development. With proper medical care, females with Turner syndrome should be
able to lead full, productive lives. The primary therapies for affected individuals are growth
hormone therapy and estrogen therapy.

Individuals with Turner syndrome may benefit from growth hormone (GH) therapy, which
can help to normalize height. The Food and Drug Administration (FDA) has approved the
use of recombinant GH for the treatment of children with Turner syndrome. Recombinant
GH is artificially created in a lab. The best age for beginning GH therapy and the optimum
duration of therapy in females with Turner syndrome is unknown. Generally, the earlier GH
therapy is started, the more beneficial it tends to be for affected individuals. However, there
are many individual factors that ultimately determine the effectiveness of GH therapy.
Decisions regarding GH therapy in individuals with Turner syndrome are best made after
consultation with a pediatric endocrinologist.

Most females with Turner syndrome require sex hormone replacement therapy in order to
undergo normal development associated with puberty and to begin their menstrual
periods. Estrogen and progesterone replacement therapy will generally promote puberty
and the development of secondary sexual characteristics. Hormone replacement therapy is
usually begun around 12-14 years of age. This is when most average girls will enter puberty.
The timing of initiating puberty also takes into account growth progress on growth hormone
replacement. Replacement therapy must be continued in order to maintain these
characteristics and most women will require estrogen and progesterone therapy until
menopause.

Most individuals with Turner syndrome remain unable to conceive children. In vitro
fertilization (IVF) with a donor egg and an implanted pregnancy is sometimes possible. In
most cases, these pregnancies carry risks and require close consultation with a patient’s
healthcare team.

Females with Turner syndrome and Y chromosome material (Y chromosome mosaicism) are
at an increased risk of developing a tumor of the gonads. In such cases, it is recommended
that the non-functioning gonadal tissue be removed.

Additional treatment is symptomatic and supportive. For example, thyroid hormone

replacement therapy may be used to treat individuals with thyroid disease. Correction of
hearing loss with hearing aids is another important intervention, which can help with
learning and social interaction.

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Early intervention is important in ensuring that children with Turner syndrome reach their
potential. Special services that may be beneficial to affected children may include special
psychosocial support, speech therapy, and other such services.

Investigational Therapies
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All
studies receiving U.S. government funding, and some supported by private industry, are
posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda,
MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-
and-research-studies/

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

For information about clinical trials conducted in Europe, contact:

https://www.clinicaltrialsregister.eu/

Contact for additional information about Turner syndrome:

Melissa L. Crenshaw, MD, FACMG, FAAP

Chief, Division of Genetics
Johns Hopkins All Children’s Hospital
601 5th St. S
St. Petersburg, FL 33701
(727) 767-2687

NORD Member Organizations

Turner Syndrome Society of the United States
11250 West Road, Suite G
Houston, TX 77065
Phone: (832) 912-6006
Toll-free: (800) 365-9944
Email: tssus@turnersyndrome.org
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 Website: http://www.turnersyndrome.org

Other Organizations
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phone: (301) 251-4925
Toll-free: (888) 205-2311
Website: http://rarediseases.info.nih.gov/GARD/
Human Growth Foundation
997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Phone: (516) 671-4041
Toll-free: (800) 451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Phone: (650) 462-3174
Email: info@letthemhear.org
Website: http://www.letthemhear.org
MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Phone: (630) 836-8200
Toll-free: (800) 362-4423
Email: contactus@magicfoundation.org
Website: http://www.magicfoundation.org
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Toll-free: (800) 370-2943
Email: NICHDInformationResourceCenter@mail.nih.gov
Website: http://www.nichd.nih.gov/
Turner Syndrome Foundation
PO Box 726
Holmdel, NJ 7733
Phone: (732) 847-3385
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 Toll-free: (800) 594-4585
Email: info@tsfusa.org
Website: http://www.turnersyndromefoundation.org
Turner Syndrome Global Alliance
10708 W 129th St
Overland Park, KS 66213 USA
Phone: (919) 539-8064
Email: TSGA@TSGAlliance.org
Website: http://tsgalliance.org/
Turner Syndrome Society of Canada
2100 Thurston Drive Unit 7
Ottawa
Ontario, K1G 4K8 Canada
Phone: (613) 321-2267
Toll-free: (800) 465-6744
Email: info@turnersyndrome.ca
Website: http://www.turnersyndrome.ca/
Turner Syndrome Support Society (UK)
13 Simpson Court
11 South Ave
Clydebank, G81 2NR Scottland
Phone: 01419528006
Toll-free: 08452307520
Email: Turner.Syndrome@tss.org.uk
Website: http://www.tss.org.uk

References
JOURNAL ARTICLES
Corbitt H, Morris SA, Gravholt CH, et al. TIMP3 and TIMP1 are risk genes for bicuspid aortic
valve and aortopathy in Turner syndrome. PLos Genet. 2018 Oct 3; 14(10): e1007692.
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007692

Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular Health in Turner

Syndrome: A Scientific Statement From the American Heart Association. Circ Genom Precis
Med. 2018 Oct;11(10):e000048.
https://www.ahajournals.org/doi/10.1161/HCG.0000000000000048

Gravholt CH, Anderson NH, Conway GS et al. Clinical practice guidelines for the care of girls
and women with Turner syndrome: proceedings from the 2016 Cincinnati International
Turner Syndrome Meeting. Eur J Endocrinol. 2017; 177(3): G1-G70.
http://ncbi.nlm.nih.gov/pubmed/28705803

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Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic
dilation in the young. Pediatrics. 2008;121:e1622-e1627.
http://www.ncbi.nlm.nih.gov/pubmed/18504294

McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. Expert Rev
Endocrinol Metab. 2008;3:771-775. http://www.ncbi.nlm.nih.gov/pubmed/19789718

Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr
Metab Disord. 2005;6:269-280. http://www.ncbi.nlm.nih.gov/pubmed/16311945

Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227-1238.

http://www.ncbi.nlm.nih.gov/pubmed/15371580

INTERNET
Danieal MS, Postellon, DC. Turner syndrome. Emedicine Journal, July 20, 2018. Available at:
http://emedicine.medscape.com/article/949681-overview
Accessed January 7, 2019.

Mayo Clinic for Medical Education and Research. Turner Syndrome. November 18, 2017.
Available at: http://www.mayoclinic.com/health/turner-syndrome/DS01017 Accessed
January 7, 2019.

National Institute of Child Health and Human Development. Turner Syndrome, December 1,
2016. Available at: http://turners.nichd.nih.gov/ Accessed January 7, 2019.

Years Published
1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004, 2008, 2012,
2019
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