Focal Dermal Hypoplasia
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Focal Dermal Hypoplasia is not the name you expected.
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare multisystem disorder that principally involves the development of the skin, hands and feet and eyes. It is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. A majority of the cases of FDH (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on various parts of the body. This syndrome displays a wide array of symptoms and may affect almost any organ. FDH is caused by mutations or duplications/deletions in the PORCN gene.
Ectodermal Dysplasia Society
- Unit 1 Maida Vale Business Centre
- England, GL53 7ER
- United Kingdom
- Tel: 4401242261332
- Tel: 4407805775703
- Email: email@example.com
- Website: http://www.ectodermaldysplasia.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
NIH/National Institute of Dental and Craniofacial Research
- Building 31, Room 2C39
- 31 Center Drive, MSC 2290
- Bethesda, MD 20892
- Tel: (301)496-4261
- Fax: (301)480-4098
- Tel: (866)232-4528
- Email: firstname.lastname@example.org
- Website: http://www.nidcr.nih.gov/
National Foundation for Ectodermal Dysplasias
- 6 Executive Drive
- Suite 2
- Fairview Hights, IL 62208
- Tel: 618-566-2020
- Fax: 618-566-4718
- Email: email@example.com
- Website: http://www.nfed.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 3/24/2016
Copyright 2013 National Organization for Rare Disorders, Inc.
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