Jackson-Weiss syndrome
آخر تحديث 18 Aug 2020
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Jackson-Weiss syndrome is a genetic disorder characterised by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
الوصف
Jackson-Weiss syndrome is a genetic disorder characterised by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.
Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.
Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
JWS
Related patient information and medicines
Patient information leaflet
الضلع العنقي
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Patient information leaflet
الذبحة الصدرية الدقيقة
يوجد no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
تمزق مالوري فايس
Mallory-Weiss syndrome (also called Mallory-Weiss tear) is the name given to النزيف and other symptoms caused by a tear in the lining of the upper part of the gut (gastrointestinal tract). It is usually diagnosed by having a test called a gastroscopy (endoscopy). This involves a tube being passed down through the gullet (oesophagus) into the.
Patient information leaflet
متلازمة إهلرز دانلوس
ال Ehlers-Danlos syndromes (EDS) يكون a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
متلازمة مضادات الاختلاج الجنينية
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Stopping your medication makes you.
Patient information leaflet
اضطرابات طيف فرط الحركة
اضطرابات طيف فرط الحركة include all people with what used to be called joint فرط الحركة syndrome, and before that benign joint hypermobility syndrome. Anyone who has symptoms... Hypermobility spectrum disorders (HSDs) يكون a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred.
قراءة إضافية ومراجع
- Jackson-Weiss syndrome; MedlinePlus, National Library of Medicine.
- Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28.
- Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671.
- Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100(4):325-9. doi: 10.1002/ajmg.1271. No abstract available.
- Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. Am J Med Genet. 2001 May 15;100(4):315-24. doi: 10.1002/ajmg.1266.
- Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. doi: 10.1038/ng1194-275.
- Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Feb 2008 | نُشر في الأصل
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