sábado, 8 de octubre de 2016

Johnson neuroectodermal syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program

Johnson neuroectodermal syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program

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

Johnson neuroectodermal syndrome

Other Names:
Johnson-Mcmillin syndrome; Alopecia anosmia deafness hypogonadism syndrome; AADH syndrome

We add information to this page as we receive questions about this condition. If you have a specific question, contact a GARD Information Specialist.

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 theMedlinePlus Medical Dictionary for definitions of the terms below.
Signs and SymptomsApproximate number of patients (when available)Help
Abnormality of the genital system90%
Abnormality of the eyelashes50%
Abnormality of the pinna50%
Aplasia/Hypoplasia of the eyebrow50%
Cognitive impairment50%
Conductive hearing impairment50%
Facial asymmetry50%
Facial palsy50%
Short stature50%
Last updated: 10/1/2016

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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

    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.

    Organizations Supporting this Disease

      Social Networking Websites

      • Alopecia World is a social networking site that offers support, resources, and information for people living with hair loss.

        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.

        Genetics 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 Johnson neuroectodermal syndrome. Click on the link to view a sample search on this topic.

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