Focal Dermal Hypoplasia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Focal Dermal Hypoplasia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

Ectodermal Dysplasia Society

Unit 1 Maida Vale Business Centre
England, GL53 7ER
United Kingdom
Tel: 4401242261332
Tel: 4407805775703

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

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

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

National Foundation for Ectodermal Dysplasias

6 Executive Drive
Suite 2
Fairview Hights, IL 62208
Tel: 618-566-2020
Fax: 618-566-4718

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 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.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

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.