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Disease Profile

Turner syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q96.0 Q96.1 Q96.2 Q96.3 Q96.4 Q96.8 Q96.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ullrich-Turner syndrome; Bonnevie-Ulrich syndrome; 45, X Syndrome;

Categories

Chromosome Disorders; Newborn Screening

Summary

Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). Signs and symptoms may include short staturepremature ovarian failure, a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.[1][2]

Symptoms

There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present.

Additional symptoms of Turner syndrome may include:

  • a wide, webbed neck
  • a low or indistinct hairline in the back of the head
  • swelling (lymphedema) of the hands and feet
  • broad chest and widely spaced nipples
  • arms that turn out slightly at the elbow
  • congenital heart defects or heart murmur
  • scoliosis (curving of the spine) or other skeletal abnormalities
  • kidney problems
  • an underactive thyroid gland
  • a slightly increased risk to develop diabetes, especially if older or overweight
  • osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy).[2][1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal forearm bone morphology
Abnormal shape of of forearm bone
0040073
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples

[ more ]

0006709
Cubitus valgus
Outward turned elbows
0002967
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Female infertility
0008222
High urinary gonadotropin level
0003492
Increased circulating gonadotropin level
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess

[ more ]

0000837
Increased upper to lower segment ratio
0012774
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Osteopenia
0000938
Osteoporosis
0000939
Postnatal growth retardation
Growth delay as children
0008897
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure

[ more ]

0008209
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short sternum
0000879
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
30%-79% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Aortic arch aneurysm
0005113
Broad neck
Increased width of neck
Wide neck

[ more ]

0000475
Dermatoglyphic ridges abnormal
0005689
Elevated hepatic transaminase
High liver enzymes
0002910
Enlargement of the distal femoral epiphysis
Enlargement of the outermost thighbone end part
0006438
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Genu valgum
Knock knees
0002857
Hashimoto thyroiditis
0000872
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypermobility of toe joints
0010510
Hypertension
0000822
Hypoplastic toenails
Underdeveloped toenails
0001800
Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviours
0000758
Irregular proximal tibial epiphyses
Irregular innermost shankbone end part
Irregular innermost shinbone end part

[ more ]

0006456
Kyphosis
Hunched back
Round back

[ more ]

0002808
Low posterior hairline
Low hairline at back of neck
0002162
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Neck pterygia
0009759
Obesity
Having too much body fat
0001513
Primary amenorrhea
0000786
Recurrent otitis media
Recurrent middle ear infection
0000403
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Secondary amenorrhea
Previous menstrual periods stop
0000869
Shield chest
0000914
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Specific learning disability
0001328
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck

[ more ]

0000474
Webbed neck
Neck webbing
0000465
5%-29% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Alopecia

Cause

Turner syndrome is caused by a female having one normal X chromosome in each of her cells, while the other sex chromosome is either missing or structurally abnormal. Females without Turner syndrome have 2 full X chromosome in all of their cells, and males have one X chromosome and one Y chromosome. The missing genetic material affects development before and after birth.

Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception.

Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited) or it may be inherited from a parent.

Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception).

It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.[1]

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Somatropin (r-DNA) for injection(Brand name: Humatrope) Manufactured by Eli Lilly and Company
    FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox-containing gene) deficiency whose epiphyses are not closed.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Nutropin AQ) Manufactured by Genentech, Inc.
    FDA-approved indication: For the treatment of growth failure associated with Turner syndrome.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Nutropin AQ) Manufactured by Genentech, Inc.
    FDA-approved indication: For use in the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion. Also for treatment of children with growth failure associated with chronic renal insufficiency and as replacement therapy for growth hormone deficiency in adults after epiphyseal closure.
    National Library of Medicine Drug Information Portal

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
    • The Mayo Clinic Web site provides further information on Turner syndrome.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • MedlinePlus Genetics contains information on Turner syndrome. This website is maintained by the National Library of Medicine.
    • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Turner syndrome. Genetics Home Reference. January, 2012; https://ghr.nlm.nih.gov/condition/turner-syndrome.
          2. Learning About Turner Syndrome. NHGRI. September 24, 2013; https://www.genome.gov/19519119.
          3. Daniel MS. Turner Syndrome. Medscape Reference. August 7, 2015; https://emedicine.medscape.com/article/949681-overview.
          4. Turner syndrome. Mayo Clinic. August 23, 2014; https://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/definition/con-20032572.

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