Nevo syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo syndrome have shown a similar relation to Ehlers–Danlos syndrome, a connective tissue disorder. Nevo syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth,
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| - Nevo syndrome (en)
- Zespół Nevo (pl)
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| - Nevo syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo syndrome have shown a similar relation to Ehlers–Danlos syndrome, a connective tissue disorder. Nevo syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth, (en)
- Zespół Nevo (ang. Nevo syndrome, Cerebral gigantism, Nevo type) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie recesywnie. Charakteryzuje się nadmiernym rozwojem zarówno w okresie prenatalnym, jak i po urodzeniu, nadmierną elastycznością stawów, kifozą, hipotonią mięśniową oraz niepełnosprawnością intelektualną. Obecnie zespół ten jest uważany za kifoskoliotyczną postać zespołu Ehlersa-Danlosa (dawniej typ VI lub VIa). (pl)
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| - Nevo syndrome is inherited in an autosomal recessive manner. (en)
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| - Cerebral gigantism, Nevo type (en)
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| - Nevo syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo syndrome have shown a similar relation to Ehlers–Danlos syndrome, a connective tissue disorder. Nevo syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth, a highly arched palate, undescended testes in males, low-set ears, increased head circumference, among other symptoms. (en)
- Zespół Nevo (ang. Nevo syndrome, Cerebral gigantism, Nevo type) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie recesywnie. Charakteryzuje się nadmiernym rozwojem zarówno w okresie prenatalnym, jak i po urodzeniu, nadmierną elastycznością stawów, kifozą, hipotonią mięśniową oraz niepełnosprawnością intelektualną. Zespół został po raz pierwszy opisany w 1974 przez izraelską lekarz . W sumie opisano sześć przypadków w większości u osób pochodzenia arabskiego (1997). Zespół spowodowany jest uszkodzeniem genu PLOD1 zlokalizowanego na ramieniu krótkim chromosomu 1 w regionie p36. Obecnie zespół ten jest uważany za kifoskoliotyczną postać zespołu Ehlersa-Danlosa (dawniej typ VI lub VIa). (pl)
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