Health Library Focal Dermal HypoplasiaFrom Healthwise

National Organization for Rare Disorders, Inc.

Important
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

• None

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. Most cases (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. In 2007, scientists at Baylor College of Medicine identified the gene that accounts for most cases of this disorder.

National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: info@nfed.org
Internet: http://www.nfed.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

NIH/National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda, MD 20892-3500
USA
Tel: (301)402-7364
Fax: (301)907-8830
TDD: (301)656-7581
Email: nohic@nidcr.nih.gov
Internet: http://www.nohic.nidcr.nih.gov

Anophthalmia/Microphthalmia Registry
C/O Genetics
Albert Einstein Medical Center, Levy 2 West
5501 Old York Rd
Philadelphia, PA 19141
Tel: (215)456-8722
Fax: (215)456-2356
Email: schneida@einstein.edu
Internet: http://www.angelfire.com/mi/microphthalmia/icanqa.html

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/10000409

Ectodermal Dysplasia Society
108 Charlton Lane
Cheltenham
Glos., GL53 9EA
England
Tel: +44 1242 261332
Email: diana@ectodermaldysplasia.org
Internet: http://www.ectodermaldysplasia.org

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  8/15/2007
Copyright  1992, 1998, 2006 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.