The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the aorta||90%|
|Aplasia/Hypoplasia of the nipples||90%|
|Low posterior hairline||90%|
|Abnormal localization of kidney||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the metacarpal bones||50%|
|Atria septal defect||7.5%|
|Atypical scarring of skin||7.5%|
|Delayed skeletal maturation||7.5%|
|Reduced bone mineral density||7.5%|
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139(2):57-66.
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I underwent an IVF cycle and got pregnant but miscarried at 9 weeks. We had genetic testing and were told the child had Turner syndrome. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. It seems that Turner syndrome is a "random" event, but based on our first pregnancy, are we at a higher risk of having a child with a genetic abnormality? See answer
How can I learn more about learning disabilities in women and girls with Turner syndrome? See answer
My daughter was diagnosed with Turner syndrome at the age of 21. She has flat feet and one leg is shorter than the other, which affects the way she walks. Could this be caused by hip dysplasia? Is there anything that can be done to improve the way she walks? See answer
I have had three stillborns with Potter syndrome. I was told there is a link between Potter syndrome and Turner syndrome; is this true? See answer
I recently learned that my daughter has a karyotype of 45,X/46,XY, consistent with mosaic Turner syndrome. The only sign she has is mild clitoromegaly. Can you give me general information about mosaic Turner syndrome and about the prognosis of this condition? See answer
Could someone with a mild case of Turner syndrome have occasional monthly menses? See answer
My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family? See answer
I have Turner syndrome, and have been getting my period regularly. Does this mean that my hormones are at a normal level right now? Also, I was wondering if women with Turner syndrome are able to have a normal sexual life or if it is harder for them to get sexually aroused because of hormone differences. See answer