Focal Dermal Hypoplasia / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Focal Dermal Hypoplasia

Synonyms of Focal Dermal Hypoplasia

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

Disorder Subdivisions

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.

Organizations related to Focal Dermal Hypoplasia

Anophthalmia/Microphthalmia Registry
C/O Genetics
Philadelphia PA 19141
Phone #: 215-456-8722
800 #: --
e-mail: [email protected]
Home page: http://www.angelfire.com/mi/microphthalmia/icanqa.html
Ectodermal Dysplasia Society
108 Charlton Lane
Glos. None GL53 9EA
Phone #: +44- 12-42 261332
800 #: N/A
e-mail: [email protected]
Home page: http://www.ectodermaldysplasia.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
NIH/National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda MD 20892-3500
Phone #: 301-402-7364
800 #: --
e-mail: [email protected]
Home page: http://www.nohic.nidcr.nih.gov
National Foundation for Ectodermal Dysplasias
410 East Main Street
Mascoutah IL 62258-0114
Phone #: 618-566-2020
800 #: --
e-mail: [email protected]
Home page: http://www.nfed.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