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Focal Dermal Hypoplasia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Focal Dermal Hypoplasia" returned 0 free, full-text review articles. First 0 results:
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Last Updated: Nov 29, 2017

Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype are not straightforward impacting the quality of the prenatal ...

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.
Last Updated: Mar 10, 2014

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling ...

Focal dermal hypoplasia: updates.
Last Updated: Dec 10, 2013

Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Focal Dermal Hypoplasia" returned 0 free, full-text editorial articles. First 0 results:
Focal dermal hypoplasia.
Last Updated: Sep 07, 2019

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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Focal Dermal Hypoplasia" returned 30 free, full-text research articles. First few results:
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.
Last Updated: Apr 21, 2020

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have ...

Growth failure in focal dermal hypoplasia.
Last Updated: Apr 22, 2020

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes ...

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30 Free Research Articles 153 Research Articles