Nasodigitoacoustic syndrome (original) (raw)
Das Keipert-Syndrom oder Naso-digito-akustisches-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Gesichtsdysmorphien („Naso“), Brachydaktylie („digito“) und Taubheit („akustisch“). Die Namensbezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1973 durch James A. Keipert und Mitarbeiter.
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| dbo:abstract | المتلازمة السمعية الإصبعية الأنفية تُسمّى أيضًا بمُتَلازِمَة كيبرت، وَهِي مُتَلازمَة خلقيَّة نَادرة وصفهَا لأول مَرة جيمس كيبرت وزملاؤه فِي عَام 1973. تَتَميّز المتلازمة بتشوه الأنف، وعرض الإِبهَام وإصبع القَدَم الكَبِير، وتقزم فِي الأصَابِع، وفُقدَان السَّمع الحِسّي العَصَبي، وتشوه فِي مَلاَمِح الوَجه مِثل فَرّط التَّبَاعد (عيون بَعِيدَة عَن بَعضِهَا بشَكل غَير عادي)، وَتَأخر فِي النّمو. يُعتقد أنه مَورُوث بِطَريقه متنحية مُرتَبطَة بالكروموسوم X، مِمّا يَعنِي وُجُود طَفْرة جينية تَسَبب الاضطِرَاب فِي الكروموسوم X، أي تَكفِي نُسخَة وَاحِدَة فَقط لتسبب ولَادَة ذَكَر مصابًا بهَذَا الاضطِرَاب بَينَما يَجب أن يُتم تَورِيث نُسخَتَين مِنْ الجين المتحور لِكَي توَلد الأُنثَى بِهَذَا الاضطِرَاب. مِنْ المُحتَمَل أنْ تَكُونَ مُتَلَازِمَة كيبرت نَاتِجَة عَن جين متحور يَقع عَلَى كرُومُوسوم X بَيْن المَوَاضِع Xq22. 2 – q28. لَمْ يَتِم تَحْدِيد مَدَى حُدُوث المتلازمة، وَلَكِن يُعتقد أنهَا تؤثِر عَلَى أقَل مِنْ 200000 شَخص فِي الوِلَايَات المُتّحِدة، ولَا تَزِيدُ عَنْ 1 لِكُل 2000 فِي أورُوبا. أنَه مُشَابه لمتلازمة كويتل (keutel) وموينكي Muenke ومتلازمة روبينشتاين – تايبي (Rubinstein) ومتلازمة Teunissen-Cremers. (ar) Das Keipert-Syndrom oder Naso-digito-akustisches-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Gesichtsdysmorphien („Naso“), Brachydaktylie („digito“) und Taubheit („akustisch“). Die Namensbezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1973 durch James A. Keipert und Mitarbeiter. (de) Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay. It is believed to be inherited in an X-linked recessive manner, which means a genetic mutation causing the disorder is located on the X chromosome, and while two copies of the mutated gene must be inherited for a female to be born with the disorder, just one copy is sufficient to cause a male to be born with the disorder. Nasodigitoacoustic syndrome is likely caused by a mutated gene located on the X chromosome between positions Xq22.2–q28. The incidence of the syndrome has not been determined, but it is considered to affect less than 200,000 people in the United States, and no greater than 1 per 2,000 in Europe. It is similar to Keutel, Muenke, Rubinstein and Teunissen–Cremers syndrome. (en) La sindrome di Keipert (detta anche sindrome nasodigitoacustica) è una malattia genetica rara con trasmissione legata all'X. La malattia comporta una deformazione del naso, pollici e alluci allargati, brachidattilia, sordità neurosensoriale e anomalie facciali, tra cui ipertelorismo oculare. Frequente è anche un ritardo globale dello sviluppo. (it) |
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| rdfs:comment | Das Keipert-Syndrom oder Naso-digito-akustisches-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Gesichtsdysmorphien („Naso“), Brachydaktylie („digito“) und Taubheit („akustisch“). Die Namensbezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1973 durch James A. Keipert und Mitarbeiter. (de) La sindrome di Keipert (detta anche sindrome nasodigitoacustica) è una malattia genetica rara con trasmissione legata all'X. La malattia comporta una deformazione del naso, pollici e alluci allargati, brachidattilia, sordità neurosensoriale e anomalie facciali, tra cui ipertelorismo oculare. Frequente è anche un ritardo globale dello sviluppo. (it) المتلازمة السمعية الإصبعية الأنفية تُسمّى أيضًا بمُتَلازِمَة كيبرت، وَهِي مُتَلازمَة خلقيَّة نَادرة وصفهَا لأول مَرة جيمس كيبرت وزملاؤه فِي عَام 1973. تَتَميّز المتلازمة بتشوه الأنف، وعرض الإِبهَام وإصبع القَدَم الكَبِير، وتقزم فِي الأصَابِع، وفُقدَان السَّمع الحِسّي العَصَبي، وتشوه فِي مَلاَمِح الوَجه مِثل فَرّط التَّبَاعد (عيون بَعِيدَة عَن بَعضِهَا بشَكل غَير عادي)، وَتَأخر فِي النّمو. (ar) Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay. (en) |
| rdfs:label | المتلازمة السمعية الإصبعية الأنفية (ar) Keipert-Syndrom (de) Sindrome di Keipert (it) Nasodigitoacoustic syndrome (en) |
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