National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Tranebjaerg Svejgaard syndrome


Other Names:
X-linked mental retardation associated with psoriasis; Mental retardation X-linked, Tranebjaerg type seizures and psoriasis; Tranebjaerg-Svejgaard syndrome; X-linked mental retardation associated with psoriasis; Mental retardation X-linked, Tranebjaerg type seizures and psoriasis; Tranebjaerg-Svejgaard syndrome; X-linked intellectual disability - seizures - psoriasis; X-linked intellectual disability-seizures-psoriasis syndrome See More
Categories:
Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include medications to control seizures.[1][2][3]
Last updated: 11/11/2015

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Psoriasiform dermatitis 0003765
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
X-linked inheritance 0001417
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Tranebjaerg Svejgaard syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. MENTAL RETARDATION AND PSORIASIS. OMIM. September 2011; http://www.omim.org/entry/309480.
  2. X-linked intellectual disability - seizures - psoriasis. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2741&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3052&Disease(s)/group%20of%20diseases=Tranebjaerg-Svejgaard-syndrome&title=Tranebjaerg-Svejgaard-syndrome&search=Disease_Search_Simple.
  3. Tranebjaerg L, Svejgaard A, Lykkesfeldt G. X-linked mental retardation associated with psoriasis: a new syndrome?. Am J Med Genet. May-June 1988; 30(1-2):263-273.