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Focal Dermal Hypoplasia

Abstract

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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

  • No subdivisions found.

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

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