Nail–patella syndrome (original) (raw)
L'osteo-onicodisplasia ereditaria, nota anche come sindrome nail-patella (NPS) (in italiano "sindrome unghia-rotula"), è una malattia genetica caratterizzata da anomalie nello sviluppo delle unghie e delle rotule. È conosciuta anche come malattia di Fong o sindrome di Turner–Kieser .A dispetto del nome, tale sindrome può interessare in realtà molte aree del corpo, come gomiti, torace e anche. Frequente è anche il coinvolgimento dei reni.
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| dbo:abstract | متلازمة الظفر والرضفة (بالإنجليزية:Nail patella syndrome) هي اضطراب جيني يتسبب في أظافر ورضفات صغيرة وناقصة التنسج، ولكنه قد يصيب أماكن أخرى في الجسم مثل الرسغين، الصدر ومفصلي الورك. الاسم «الظفر والرضفة» قد يكون مضللاً للغاية لأن المتلازمة في الغالب تصيب أماكن عديدة أخرى من الجسم كما تشمل أيضاً إنتاج أنواع معينة من البروتينات. في الأشخاص المصابون بالمتلازمة قد يصاب عضو واحد فقط أو أعضاء عدة وتعتمد شدة المتلازمة على الشخص المصاب. تسمى المتلازمة بأسماء عدة أخرى منها: متلازمة قرن الحرقفة، خلل التنسج الظفري العظمي الوراثي، داء فونغ ومتلازمة تيرنر-كيسر. من الممكن تشخيص المتلازمة عند الولادة ولكن من الشائع أن تظل غير مُشخصة لعدة أجيال. على الرغم من عدم وجود شفاء من متلازمة الظفر والرضفة ولكن توجد علاجات متاحة ومُوصي بها. (ar) Die Osteoonychodysplasie (Syn. hereditäre Onychoosteodysplasie, Turner-Kieser-Syndrom, Trauner-Rieger-Syndrom, Nail-Patella-Syndrom) ist eine autosomal-dominant vererbbare Erkrankung, die mit verschiedenen Fehlbildungen und Organfunktionsstörungen einhergeht. Ein Teilkomplex, der mit Deformationen der Fingernägel und Knochen einhergeht, wird auch als Nagel-Patella-Syndrom bezeichnet. Die Erkrankung wird weltweit beobachtet. Die Fehlbildung tritt etwa einmal unter 50.000 Neugeborenen auf, gleich häufig bei Jungen und Mädchen. Sie ist häufig schon im Kleinkindesalter tödlich, und zwar durch chronisches Nierenversagen. Die Diagnose wird mit bildgebenden Verfahren vermutet und mittels einer Nierenbiopsie gesichert. Zur Behandlung werden Kortikoide und Diuretika eingesetzt, bei fortgeschrittenen Fällen Dialyse. Eine kausale Behandlung ist nur mit einer Nierentransplantation möglich. Der US-Amerikaner John Turner, der Deutsche Willibald Kieser, die Österreicher Richard Trauner und Herwigh Rieger sowie einige weitere Ärzte veröffentlichten Fallstudien über diese Erbkrankheit in den 1920er und 1930er Jahren. (de) Le Nail-Patella syndrome est une maladie génétique qui se caractérise par l'atteinte des ongles, des genoux, des coudes et des ailes iliaques. * L'atteinte de l'ongle est la plus constante : ongle absent, peu développé ou dystrophique. * La patella (autre nom de la rotule) peut être absente, petite ou de forme irrégulière. * L'anomalie des coudes se manifeste par des limitations au mouvement. * Les os iliaques sont déformés par la présence d'exostose. Une protéinurie apparaît dans un tiers des cas pouvant aboutir à une insuffisance rénale chronique.Un glaucome à angle ouvert fait partie de la description de ce syndrome. (fr) Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins. Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome. Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. While there is no cure available for NPS, treatment is available and recommended. (en) L'osteo-onicodisplasia ereditaria, nota anche come sindrome nail-patella (NPS) (in italiano "sindrome unghia-rotula"), è una malattia genetica caratterizzata da anomalie nello sviluppo delle unghie e delle rotule. È conosciuta anche come malattia di Fong o sindrome di Turner–Kieser .A dispetto del nome, tale sindrome può interessare in realtà molte aree del corpo, come gomiti, torace e anche. Frequente è anche il coinvolgimento dei reni. (it) Zespół paznokieć-rzepka – choroba genetyczna o dziedziczeniu autosomalnym dominującym, spowodowana mutacjami w genie w locus 9q34.1 kodującym białko LIM. (pl) A síndrome unha-patela é uma doença genética que resulta em unhas e patelas (ou rótulas) pequenas ou pouco desenvolvidas, mas que pode também afectar outras regiões do corpo, como o peito, o cotovelo e a anca. O nome "unha-patela" pode pois parecer enganador devido a afetar múltiplas regiões do corpo, incluindo a produção de certas proteínas. Pode também ser designada como doença do corno ilíaco, doença de Fong, onico-osteodisplasia hereditária ou síndrome de Turner-Kiser. (pt) Het nagel-patellasyndroom (NPS) is een zeldzame autosomaal dominant genetische aandoening die afwijkingen veroorzaakt aan nagels, beenderen en soms nieren en ogen. De oorzaak van dit syndroom is een mutatie in het LMX1B-gen, gelegen op de lange arm van chromosoom 9. De ziekte ontleent haar naam aan de afwijkingen aan de nagels en knieschijven die bij de verschijnselen horen. (nl) |
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| dbo:thumbnail | wiki-commons:Special:FilePath/Nailpatellakleur1fotojanwij.jpg?width=300 |
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| dbp:caption | Nail of a patient with nail–patella syndrome (en) |
| dbp:causes | mutations in the LMX1B gene. (en) |
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| dbp:name | Nail–patella syndrome (en) |
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| dbp:synonyms | NPS (en) |
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| rdfs:comment | L'osteo-onicodisplasia ereditaria, nota anche come sindrome nail-patella (NPS) (in italiano "sindrome unghia-rotula"), è una malattia genetica caratterizzata da anomalie nello sviluppo delle unghie e delle rotule. È conosciuta anche come malattia di Fong o sindrome di Turner–Kieser .A dispetto del nome, tale sindrome può interessare in realtà molte aree del corpo, come gomiti, torace e anche. Frequente è anche il coinvolgimento dei reni. (it) Zespół paznokieć-rzepka – choroba genetyczna o dziedziczeniu autosomalnym dominującym, spowodowana mutacjami w genie w locus 9q34.1 kodującym białko LIM. (pl) A síndrome unha-patela é uma doença genética que resulta em unhas e patelas (ou rótulas) pequenas ou pouco desenvolvidas, mas que pode também afectar outras regiões do corpo, como o peito, o cotovelo e a anca. O nome "unha-patela" pode pois parecer enganador devido a afetar múltiplas regiões do corpo, incluindo a produção de certas proteínas. Pode também ser designada como doença do corno ilíaco, doença de Fong, onico-osteodisplasia hereditária ou síndrome de Turner-Kiser. (pt) Het nagel-patellasyndroom (NPS) is een zeldzame autosomaal dominant genetische aandoening die afwijkingen veroorzaakt aan nagels, beenderen en soms nieren en ogen. De oorzaak van dit syndroom is een mutatie in het LMX1B-gen, gelegen op de lange arm van chromosoom 9. De ziekte ontleent haar naam aan de afwijkingen aan de nagels en knieschijven die bij de verschijnselen horen. (nl) متلازمة الظفر والرضفة (بالإنجليزية:Nail patella syndrome) هي اضطراب جيني يتسبب في أظافر ورضفات صغيرة وناقصة التنسج، ولكنه قد يصيب أماكن أخرى في الجسم مثل الرسغين، الصدر ومفصلي الورك. الاسم «الظفر والرضفة» قد يكون مضللاً للغاية لأن المتلازمة في الغالب تصيب أماكن عديدة أخرى من الجسم كما تشمل أيضاً إنتاج أنواع معينة من البروتينات. في الأشخاص المصابون بالمتلازمة قد يصاب عضو واحد فقط أو أعضاء عدة وتعتمد شدة المتلازمة على الشخص المصاب. تسمى المتلازمة بأسماء عدة أخرى منها: متلازمة قرن الحرقفة، خلل التنسج الظفري العظمي الوراثي، داء فونغ ومتلازمة تيرنر-كيسر. (ar) Die Osteoonychodysplasie (Syn. hereditäre Onychoosteodysplasie, Turner-Kieser-Syndrom, Trauner-Rieger-Syndrom, Nail-Patella-Syndrom) ist eine autosomal-dominant vererbbare Erkrankung, die mit verschiedenen Fehlbildungen und Organfunktionsstörungen einhergeht. Ein Teilkomplex, der mit Deformationen der Fingernägel und Knochen einhergeht, wird auch als Nagel-Patella-Syndrom bezeichnet. Die Erkrankung wird weltweit beobachtet. (de) Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins. Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome. (en) Le Nail-Patella syndrome est une maladie génétique qui se caractérise par l'atteinte des ongles, des genoux, des coudes et des ailes iliaques. * L'atteinte de l'ongle est la plus constante : ongle absent, peu développé ou dystrophique. * La patella (autre nom de la rotule) peut être absente, petite ou de forme irrégulière. * L'anomalie des coudes se manifeste par des limitations au mouvement. * Les os iliaques sont déformés par la présence d'exostose. (fr) |
| rdfs:label | متلازمة الظفر والرضفة (ar) Osteoonychodysplasie (de) Osteo-onicodisplasia ereditaria (it) Nail-Patella syndrome (fr) Nail–patella syndrome (en) Nagel-patellasyndroom (nl) Zespół paznokieć-rzepka (pl) Síndrome unha-patela (pt) |
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