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Focal Dermal Hypoplasia
Important
It is possible that the main title of the report Focal Dermal Hypoplasiais not the name you expected.
Synonyms
- 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 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.
Resources
National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah
IL
62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
maryk@nfed.org
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
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
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
nohic@nidcr.nih.gov
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
schneida@einstein.edu
http://www.angelfire.com/mi/microphthalmia/icanqa.html
Ectodermal Dysplasia Society
108 Charlton Lane
Cheltenham
Glos.
GL53 9EA
England
Tel: +44 1242 261332
diana@ectodermaldysplasia.org
http://www.ectodermaldysplasia.org
For a Complete Report:
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.
WebMD Medical Reference from the National Organization of Rare Disorders
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