Pfeiffer syndrome
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
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.
Descripción
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.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Acrocephalosyndactyly, type V
ACS V
ACS5
Craniofacial-skeletal-dermatologic dysplasia
Noack syndrome
Related patient information and medicines
Patient information leaflet
Síndrome de dolor trocantérico mayor
Síndrome de dolor trocantérico mayor es 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
Síndrome de la mejilla abofeteada
Slapped cheek syndrome es 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, es an infection caused by the parvovirus B19 virus..
Patient information leaflet
Síndrome de realimentación
Síndrome de realimentación was first described in Far East prisoners after the second world war when they developed insuficiencia cardíaca after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Síndrome de realimentación es a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
Muerte súbita del lactante
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. Muerte súbita del lactante is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
Síndrome de atrapamiento precordial
Aunque precordial catch syndrome es un 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
Pre-eclampsia
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 es a complication cuál occurs in women who have severe pre-eclampsia or eclampsia. It commonly occurs between 27 and 37 weeks of pregnancy but can.
Lecturas adicionales y referencias
- 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.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.