Ectodermal dysplasia trichoodontoonychial type

Title

Categories:

Congenital and Genetic Diseases; Mouth Diseases; Skin Diseases

This disease is grouped under:

Ectodermal dysplasia

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1818

Definition

Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.

Visit the Orphanet disease page for more resources.

Last updated: 4/14/2017

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal toenail morphology	Abnormality of the toenail Abnormality of the toenails [ more ]	0008388
Abnormality of dental morphology	Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ]	0006482
Abnormality of the nose	Nasal abnormality	0000366
Hypodontia	Failure of development of between one and six teeth	0000668
Hypotrichosis	Sparse hair since birth	0001006
Irregular hyperpigmentation of back		0007521
Lipoatrophy	Loss of fat tissue in localized area	0100578
Sparse body hair		0002231
30%-79% of people have these symptoms
Abnormal eyelash morphology	Abnormal eyelashes Abnormality of the eyelashes Eyelash abnormality [ more ]	0000499
Aplasia/Hypoplasia of the eyebrow	Absence of eyebrow Lack of eyebrow Missing eyebrow [ more ]	0100840
Aplasia/Hypoplasia of the nipples	Absent/small nipples Absent/underdeveloped nipples [ more ]	0006709
Melanocytic nevus	Beauty mark	0000995
Percent of people who have these symptoms is not available through HPO
Abnormality of the thorax	Abnormality of the chest	0000765
Absent nipple	Absent nipples	0002561
Autosomal dominant inheritance		0000006
Ectodermal dysplasia		0000968
Mild neurosensory hearing impairment		0008587

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2019

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ectodermal dysplasia trichoodontoonychial type. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Ectodermal dysplasia trichoodontoonychial type:
United States Immunodeficiency Network (USIDENT) Registry

Organizations 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

Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
124 Lochiel Street
Renfrew, Ontario K7V 1W7 Canada
Telephone: +1-613-432-9732
E-mail: meghan@ectodermaldysplasia.ca
Website: http://www.ectodermaldysplasia.ca/
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: 618-566-2020
Fax: +1-618-566-4718
E-mail: info@nfed.org
Website: http://nfed.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

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 Ectodermal dysplasia trichoodontoonychial type. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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.

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