Focal Dermal Hypoplasia
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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
- Ectodermal and Mesodermal Dysplasia, Congenital
- Ectodermal and Mesodermal Dysplasia with Osseous Involvement
- Focal Dermal Dysplasia Syndrome
- Focal Dermato-Phalangeal Dysplasia
- Goltz-Gorlin Syndrome
- Goltz Syndrome
- No subdivisions found.
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.
Organizations related to Focal Dermal Hypoplasia
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