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ژنتیک - نشانگان آرسکوگ-اسکات Aarskog-Scott syndrome

نشانگان آرسکوگ-اسکات Aarskog-Scott syndrome

نویسنده : ریحانه دره گزنی شنبه 16 شهریور 1392 07:16 ب.ظ  •   

نشانگان آرسکوگ-اسکات Aarskog-Scott syndrome :


نشانگان آرسکوگ-اسکات (به انگلیسی: Aarskog-Scott syndrome) بیماری ارثی نادر با مشخصات قامت کوتاه، اختلالات صورت، اسکلتی و ناهنجاریهای دستگاه تناسلی می باشد. این سندرم یکی از علل عقب ماندگی ذهن
ی است . از جمله ناهنجاریهای این سندرم هیپرتلوریسم، پل بینی عریض، پره‌های پهن و بر آمده بینی، شلی مفاصل، جدابودن لبه داخلی پلکها و دست‌ها و پاهای کوچک است.
انتقال ژنتیکی این بیماری وابسته به X مغلوب است لذا اصولا این بیماری نادر در مردها بیشتر دیده می شود.
جهش ژنتیکی در ژن FGDY1 در باند p11.21 واقع در کروموزوم جنسی X.


تشخیص، پیش آگهی، درمان:

تشخیص احتمالی با معاینه بالینی است. تشخیص افتراقی مهم آن کودکان مادران الکلی می باشد. تشخیص قطعی با تستهای ژنتیکی است.
پیش آگهی بسته به فنوتیپ بیمار متفاوت است و می تواند ضعیف تا خوب باشد.
مانند سایر بیماریهای ژنتیکی درمان دشوار است ولی برخی از عوارض اسکلتی و عضوی با جراحی قابل اصلاح است.


Aarskog–Scott syndrome is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies.
The Aarskog–Scott syndrome (AAS) is also known as the Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia.
Aarskog–Scott syndrome is transmitted in an X-linked recessive manner. The sons of female carriers are at 50% risk of being affected with the syndrome. The daughters of female carriers are at 50% risk of being carriers themselves. Females may have mild manifestations of the syndrome. The syndrome is caused by mutation in a gene called FGDY1 in band p11.21 on the X chromosome.
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آخرین ویرایش: شنبه 16 شهریور 1392 07:25 ب.ظ

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