Pfeiffer syndrome
آخر تحديث 18 Aug 2020
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Pfeiffer syndrome is a genetic disorder characterised by 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. Pfeiffer syndrome also affects bones in the hands and feet.
الوصف
Pfeiffer syndrome is a genetic disorder characterised by 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. Pfeiffer syndrome also affects bones in the hands and feet.
Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.
In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).
Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
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
Acrocephalosyndactyly, type V
ACS V
ACS5
Craniofacial-skeletal-dermatologic dysplasia
Noack syndrome
Related patient information and medicines
Patient information leaflet
متلازمة ألم المدور الأكبر
متلازمة ألم المدور الأكبر هو a condition that causes pain over the outside of the upper thigh (or both thighs) and hip. The cause is usually due to inflammation or injury to some of the tissues that lie over the bony prominence (the greater trochanter) at the top of the thigh bone (femur). Greater trochanteric pain syndrome can sometimes.
Patient information leaflet
متلازمة الخد المصفوع
Slapped cheek syndrome هو normally a mild, short illness. However, the rash may appear to be quite dramatic. However, it can cause harm to an unborn baby so women who are pregnant a... What is slapped cheek syndrome. Slapped cheek syndrome, sometimes called fifth disease or erythema infectiosum, هو an infection caused by the parvovirus B19 virus..
Patient information leaflet
متلازمة إعادة التغذية
متلازمة إعادة التغذية was first described in Far East prisoners after the second world war when they developed فشل القلب after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. متلازمة إعادة التغذية هو a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
موت المهد
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. موت المهد is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
متلازمة القبض الصدري
على الرغم من precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. What is precordial catch syndrome. Precordial catch syndrome (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Patient information leaflet
تسمم الحمل
This means that should look out for any of the symptoms above after you give birth and report them to your doctor or midwife. This is called post natal pre-eclampsia. HELLP syndrome HELLP syndrome هو a complication which occurs in women who have severe pre-eclampsia or eclampsia. It commonly occurs between 27 and 37 weeks of pregnancy but can.
قراءة إضافية ومراجع
- Pfeiffer syndrome; MedlinePlus, National Library of Medicine.
- 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.
- Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
- Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979.
- Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be.
- Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry. 2005 Jul;76(7):352-62. doi: 10.1016/j.optm.2005.05.002.
- Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19.
- Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. doi: 10.1002/ajmg.10775.
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
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.