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Focal Dermal Hypoplasia

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Kristina Bundra, NORD Editorial Intern, and V. Reid Sutton, MD, Associate Professor, Department of Molecular & Human Genetics, Baylor College of Medicine/Texas Chidlren’s Hospital, for assistance in the preparation of this report.

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 multisystem disorder that principally involves the development of the skin, hands and feet and eyes. It is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. A majority of the cases of FDH (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. FDH is caused by mutations or duplications/deletions in the PORCN gene.

Focal Dermal Hypoplasia Resources

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