Pfeiffer Syndrome
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What is Pfeiffer syndrome?Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, the thumbs and big toes are broader and often shorter than normal. Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose. About 50 percent of children with Pfeiffer syndrome have hearing loss, and dental problems are also common. Additionally, the thumbs and big toes are broader than normal 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 or classic Pfeiffer syndrome has symptoms as described above. Most individuals with type 1 have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome, often involving problems with the nervous system. Type 2 is distinguished from type 3 by more extensive fusion of bones in the skull, leading to a cloverleaf shaped head. How common is Pfeiffer syndrome?Pfeiffer syndrome affects about 1 in 100,000 individuals. What genes are related to Pfeiffer syndrome?Mutations in the FGFR1 and FGFR2 genes cause Pfeiffer syndrome. The FGFR1 and FGFR2 genes play an important role in signaling the cell to respond to its environment, perhaps by dividing or maturing. A mutation in either gene causes prolonged signaling, which can promote early maturation of bone cells in a developing embryo and the premature fusion of bones in the skull, hands, and feet. Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene. How do people inherit Pfeiffer syndrome?This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: National Institutes of Health
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New craniosynostosis study findings have been reported by researchers at University of Miami
2007 JUN 25 -- Research findings, "Anomalous venous drainage preventing safe posterior fossa decompression in patients with chiari malformation type I and multisutural craniosynostosis. Report of two cases and review of the literature," are discussed in a new report. "The authors report on two children in whom an anomalous posterior fossa venous drainage pattern prevented safe posterior fossa decompression. Both patients had Chiari malformation Type I, multisutural craniosynostosis, and crowded posterior fossa structures," scientists in the United States report. "Both patients had been treated with ventriculoperitoneal shunts for hydrocephalus. Pfeiffer syndrome had been diagnosed in one of the patients, and the other was suspected to have osteogenesis imperfecta. Although both patients were believed to have symptoms resulting from brainstem compression, posterior fossa decompression was not offered due to profound venous anomalies noted on imaging studies that greatly increased the expected risks associated with surgery," wrote D.I. Sandberg and colleagues, University of Miami. The researchers concluded: "These cases are presented to alert neurosurgeons to carefully evaluate the posterior fossa venous anatomy prior to considering posterior fossa decompression with or without occipitocervical fusion or calvarial vault remodeling procedures in patients with multisutural craniosynostosis." Sandberg and colleagues published their study in the Journal of Neurosurgery (Anomalous venous drainage preventing safe posterior fossa decompression in patients with chiari malformation type I and multisutural craniosynostosis. Report of two cases and review of the literature. Journal of Neurosurgery, 2007;106(6 Suppl):490-4). For additional information, contact D.I. Sandberg, University of Miami Miller School of Medicine and Miami Children's Hospital, Dept. of Neurosurgery, Miami, Florida 33155 USA. The publisher's contact information for the Journal of Neurosurgery is: American Association Neurological Surgeons, University Virginia, 1224 West Main St., Ste. 450, Charlottesville, VA 22903, USA. Keywords: United States, Miami, Angiology, Craniofacial, Craniosynostosis, Neurology, Neurosurgery, Synostosis. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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