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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Kallmann's syndrome
  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • Hypogonadotropic hypogonadism and anosmia
  • Hypogonadotropic hypogonadism-anosmia syndrome
  • Dysplasia olfactogenitalis of De Morsier (formerly)
Home > Rare Diseases and Related Terms > Kallmann syndrome



Kallmann syndrome
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Kallmann syndrome is an inherited disorder characterized by delayed puberty and an impaired sense of smell. Other symptoms can include color blindness, cleft lip or palate, hearing loss, failure of the kidneys to develop, abnormal development of secondary sex characteristics (such as breast development or pubic hair), and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and underdeveloped testes. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed.[1][2]

Four types of Kallmann syndrome have been identified, which are designated as types 1 through 4. The most common type is Kallmann syndrome 1, which is inherited in an X-linked recessive fashion. Autosomal recessive and autosomal dominant inheritance has been noted in the other types.[1] Mutations in the KAL1 gene cause Kallmann syndrome 1 and Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in PROKR2 cause Kallmann syndrome 3 and mutations in the PROK2 gene cause Kallmann syndrome 4. Other genes associated with this syndrome include CHD7 and FGF8.[1][2]


References
  1. Kallmann syndrome. Genetics Home Reference. 2008 Available at: http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed December 22, 2011.
  2. Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WE. Kallmann syndrome. GeneReviews. 2011 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed December 22, 2011.
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 General | Management Guidelines
More Detailed Information (Found 5 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Kallmann syndrome. Click on the link to go to GHR and review the information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 7 resources)
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  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Testing | Parent Resources
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 1 resource)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
 
Clinical Trials & Research (Found 3 resources)
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    • ClinicalTrials.gov lists trials that are studying or have studied Kallmann syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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