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Bookmark or Share- Focal dermal hypoplasia (Goltz syndrome)Focal dermal hypoplasia is a genetically inherited disorder that can affect the development of many different organ systems and was first described by Goltz in 1962. It presents with characteristic abnormalities of the skin, eyes and teeth and may also have effects on the skeletal, gastrointestinal, genitourinary , neurological and ...
- Goltz Syndrome - NFEDGoltz syndrome is a rare genetic condition characterized by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include thin skin and areas of missing skin; fat nodules in skin manifesting as soft, yellow-pink nodules; and pigmentary changes.
- Focal dermal hypoplasia (Goltz syndrome) - UpToDateFocal dermal hypoplasia (FDH; MIM #305600), also known as Goltz syndrome or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder that is lethal in utero in males [1]. The primary feature of FDH is patchy dermal hypoplasia, with herniation of fat through defects in the dermis.
- Focal dermal hypoplasia - WikipediaFocal dermal hypoplasia is a form of ectodermal dysplasia. [1] . It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. [2] .
- Focal Dermal Hypoplasia Syndrome - MedscapeFocal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. It is also known as Goltz syndrome or Goltz-Gorlin syndrome and was first...
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