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Disease Profile
47 XXX 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
Q97.0
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)
Trisomy X; Triple X syndrome; Triple-X female;
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Endocrine Diseases;
Summary
47 XXX
Symptoms
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 | ||
Abnormality of |
0002916 | |
30%-79% of people have these symptoms | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Global |
0001263 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Specific learning disability | 0001328 | |
Tall stature |
Increased body height
|
0000098 |
5%-29% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Depressivity |
Depression
|
0000716 |
Hip dysplasia | 0001385 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Multicystic kidney dysplasia | 0000003 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
Secondary amenorrhea |
Previous menstrual periods stop
|
0000869 |
Seizure | 0001250 | |
Tremor | 0001337 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
- Early intervention services for infants and children that are diagnosed with the condition. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. These services may include speech, occupational, physical or developmental therapy, starting in the early months of life or as soon as needs are identified.
- Periodic screenings throughout childhood: Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems.
- Educational assistance. Receiving educational help to learn techniques and strategies to be successful in school and daily life.
- Supportive environment and counseling. Girls with triple X syndrome may be more prone to anxiety, as well as behavior and emotional problems. It is important to have a supportive environment and psychological counseling which may help teaching the family how to demonstrate love and encouragement, and discourage behaviors that might negatively impact learning and social functioning.
- Assistance and support in daily functioning. If there is developmental delays, this assistance and support may include help with activities of daily living, social opportunities and employment.
It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.[4]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis prior to definitive karyotype results includes fragile X syndrome, tetrasomy X, pentasomy X, and Turner syndrome mosaicism (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Association for X and Y Chromosome Variations (AXYS)
P.O. Box 861
Mendenhall, PA 19357
Toll-free: 1-888-999-9428
E-mail: [email protected]
Website: https://genetic.org/ -
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: [email protected]
Website: https://www.sdbp.org/index.cfm
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 Mayo Clinic Web site provides further information on 47 XXX syndrome.
- Genetics Home Reference (GHR) contains information on 47 XXX syndrome. This website is maintained by the National Library of Medicine.
- 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.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 47 XXX syndrome.
In-Depth Information
- 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 47 XXX syndrome. Click on the link to view a sample search on this topic.
References
- Triple X syndrome. Genetics Home Reference. June 2014; https://ghr.nlm.nih.gov/condition/triple-x-syndrome.
- Triple X syndrome. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/basics/definition/con-20033705?p=1.
- Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson. A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases. May 2010; 11:5-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883963/?tool=pubmed.
- Samango-Sprouse C. Trisomy X. National Organization for Rare Disorders (NORD). 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1024/viewAbstract.
- Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. May 2010; 11:5-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883963/?tool=pubmed. Accessed 9/24/2014.
- Triple X syndrome. Mayo Clinic. December, 2015; https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/diagnosis-treatment/drc-20350981.
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