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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Combined Mesoectodermal Dysplasia
  • DHOF
  • Ectodermal and Mesodermal Dysplasia with Osseous Involvement
  • Ectodermal and Mesodermal Dysplasia, Congenital
  • FDH
  • Focal Dermal Dysplasia Syndrome
  • Focal Dermato-Phalangeal Dysplasia
  • FODH
  • Goltz Syndrome
  • Goltz-Gorlin Syndrome

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.


National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Hiights, IL 62208-1360
Tel: (618)566-2020
Fax: (618)566-4718

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
TDD: (301)565-2966

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

Anophthalmia/Microphthalmia Registry
Albert Einstein Medical Center
5501 Old York Rd
Genetics Levy 2 West
Philadelphia, PA 19141
Tel: (215)456-8722
Fax: (215)456-2356

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
TDD: (888)205-3223

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  11/20/2013
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