Rare Pediatrics News
Disease Profile
Ectodermal dysplasia
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.
6-9 / 10 000
Age of onset
Neonatal
ICD-10
-
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
Categories
Congenital and Genetic Diseases
Summary
Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of
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
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American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: [email protected]
Website: https://americanhairloss.org -
Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
124 Lochiel Street
Ontario , K7V 1W7 Canada
Telephone: +1-613-432-9732
E-mail: [email protected]
Website: https://www.ectodermaldysplasia.ca/ -
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: [email protected]
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/ -
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: https://dermatology.stanford.edu/contact/ -
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: +1-618-566-2020
Fax: +1-618-566-4718
E-mail: [email protected]
Website: https://www.nfed.org/ -
The Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
Leckhampton
Cheltenham
Gloucestershire GL53 7ER
United Kingdom
Telephone: +44 (0) 1242 261332
E-mail: [email protected]
Website: https://edsociety.co.uk/ -
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: [email protected]
Website: https://www.worldcf.org/
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ectodermal dysplasia. Click on the link to view a sample search on this topic.
References
- About Ectodermal Dysplasias. National Foundation for Ectodermal Dysplasias. https://nfed.org/index.php/about_ed/about-ectodermal-dysplasias.
- Ectodermal dysplasia. MedlinePlus. July 23, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001469.htm.
- Genetics. National Foundation for Ectodermal Dysplasias. 2016; https://nfed.org/index.php/about_ed/genetics.
- Ectodermal dysplasia syndrome. Orphanet. 2013; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11399.
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