focal dermal hypoplasia

focal dermal hypoplasia
an X-linked dominant disorder caused by mutation in the PORCN gene (locus: Xp11.23), which encodes an endoplasmic reticulum transmembrane protein involved in processing of Wnt proteins. It is found almost exclusively in females, being lethal to males in utero, and is characterized by anomalies of the skin, digits, and eyes, and sometimes mental retardation. Called also Goltz syndrome.

Medical dictionary. 2011.

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  • Focal dermal hypoplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29896 ICD10 = ICD10|Q|82|8|q|80 ICD9 = ICD9|759.89 ICDO = OMIM = 305600 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 155 MeshID = D005489 Focal dermal hypoplasia is a form of… …   Wikipedia

  • dermal aplasia — lack of skin development in a circumscribed area; see focal dermal hypoplasia, under hypoplasia …   Medical dictionary

  • Hypoplasia — Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all. * * * 1.… …   Medical dictionary

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