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Disease Profile
Turner syndrome
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Ullrich-Turner syndrome; Bonnevie-Ulrich syndrome; 45, X Syndrome;
Categories
Chromosome Disorders; Newborn Screening
Summary
Turner
Symptoms
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 murmurscoliosis (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 ofestrogen , (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 | |
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 |
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
Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a 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 TreatmentFDA-Approved TreatmentsThe 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.
OrganizationsSupport 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 moreThese 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
In-Depth Information
Selected Full-Text Journal Articles
References
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