Pfeiffer syndrome is a rare genetic disorder , characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
11-561: [REDACTED] Look up pfeiffer in Wiktionary, the free dictionary. Pfeiffer may refer to: Medicine [ edit ] Pfeiffer syndrome , a rare genetic disorder characterized by the premature fusion of certain bones of the skull Infectious mononucleosis , also known as the kissing disease, or Pfeiffer's disease Organizations [ edit ] Pfeiffer University , Misenheimer, North Carolina, U.S. Carl A. Pfeiffer ,
22-462: A German piano manufacturer Pfeiffer Vacuum , a German manufacturer of vacuum pumps Places [ edit ] Pfeiffer, Arkansas , U.S. Pfeiffer, Ohio , U.S. Pfeiffer Lake, Minnesota , U.S. Pfeiffer Big Sur State Park Julia Pfeiffer Burns State Park Other [ edit ] Pfeiffer (surname) Pfeiffer effect , an optical phenomenon See also [ edit ] Pfeiffer House (disambiguation) Pfeifer ,
33-412: A cloverleaf deformity; and type III is similar to type II, but without the cloverleaf deformity. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits ( pollex varus and hallux varus ). Unusually short fingers and toes ( brachydactyly ) are also common, and there may be some webbing or fusion between the digits ( syndactyly ). Pfeiffer syndrome
44-418: A higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death. The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012). In 1964, Pfeiffer described eight individuals in three generations of
55-510: A surname Pfeffer , a surname Topics referred to by the same term [REDACTED] This disambiguation page lists articles associated with the title Pfeiffer . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=Pfeiffer&oldid=1180725134 " Categories : Disambiguation pages Place name disambiguation pages Hidden categories: Short description
66-431: Is an underdeveloped upper jaw ( maxillary hypoplasia ). More than half of children with Pfeiffer syndrome have hearing loss; dental problems are common. A baby with Pfeiffer syndrome may have a small, beak-shaped nose; crowded, crooked teeth; and sleep apnea, due to nasal blockage. There are three main types of Pfeiffer syndrome: type I is the mildest and most common; type II is the most severe, with neurological problems and
77-523: Is different from Wikidata All article disambiguation pages All disambiguation pages Pfeiffer syndrome Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2 . The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2 . There
88-414: Is named after a German geneticist, Rudolf Arthur Pfeiffer (1931–2012), who described it in 1964. Many of the facial characteristics result from the premature fusion of the skull bones ( craniosynostosis ). The head is unable to grow normally, which leads to a high, prominent forehead ( turri brachycephaly ) and eyes that appear to bulge ( proptosis ) and are set wide ( hypertelorism ). In addition, there
99-473: Is no cure for the syndrome. Treatment is supportive and often involves surgery in the earliest years of life to correct skull deformities and respiratory function. Most persons with Pfeiffer syndrome type 1 have a normal intelligence and life span; types 2 and 3 typically cause neurodevelopmental disorders and early death. Later in life, surgery can help in bone formation and facial construction. Pfeiffer syndrome affects about 1 in 100,000 persons. The syndrome
110-534: Is strongly associated with mutations of the fibroblast growth factor receptor 1 ( FGFR1 ) on chromosome 8 or the fibroblast growth factor receptor 2 ( FGFR2 ) gene on chromosome 10 . These genes code for fibroblast growth factor receptors , which are important for normal bone development. Advanced paternal age is thought to be a risk factor for sporadic cases of Pfeiffer syndrome due to an increase in mutations in sperm as men become older. The most widely accepted clinical classification of Pfeiffer syndrome
121-514: Was published by M. Michael Cohen in 1993. Cohen divided the syndrome into three possibly overlapping types, all of which are characterized by broad thumbs, broad great toes, brachydactyly and possibly syndactyly : The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities. Children with Pfeiffer syndrome types 2 and 3 "have
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