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  3. Ectodermal dysplasia alopecia preaxial polydactyly
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Ectodermal dysplasia alopecia preaxial polydactyly


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Other Names:
Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance

Symptoms Symptoms


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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.

Showing of 18 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the nail 0001597
Alopecia
Hair loss
0001596
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of the 1st metatarsal
Complete duplication of the 1st long bone of foot
0010098
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Ectodermal dysplasia 0000968
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Midline notch of upper alveolar ridge 0009084
Preaxial polydactyly 0100258
Smooth philtrum 0000319
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
0000653
Sporadic
No previous family history
0003745
Telecanthus
Corners of eye widely separated
0000506
Showing of 18 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Research Research


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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 alopecia preaxial polydactyly. 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 alopecia preaxial polydactyly:
    United States Immunodeficiency Network (USIDENT) Registry
     

Organizations Organizations


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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

  • American Hair Loss Association
    23679 Calabasas Road # 682
    Calabasas, CA 91301-1502
    E-mail: info-ahla@americanhairloss.org
    Website: http://americanhairloss.org
  • Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
    124 Lochiel Street
    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: +1-618-566-2020
    Fax: +1-618-566-4718
    E-mail: info@nfed.org
    Website: https://www.nfed.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • The New Zealand Dermatolgical Society's Web site has information on ectodermal dysplasia. Click on the link above to view this information page.

In-Depth Information

  • Medscape Reference provides information on ectodermal dysplasias. 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.
  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ectodermal dysplasia alopecia preaxial polydactyly. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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Find out how with the NCATS Toolkit.

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