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: schneida@einstein.edu
      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: diana@ectodermaldysplasia.org
      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: NIAMSinfo@mail.nih.gov
      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: nohic@nidcr.nih.gov
      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: info@nfed.org
      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