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
Research from University of California yields new findings on acrocephalosyndactylia
2009 JUL 13 - (NewsRx.com) -- According to recent research published in the Journal of Craniofacial Surgery, "Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad thumbs/toes. We document their treatment with 2 monobloc advancements and discuss growth disturbances in craniofacial dysostosis." "At 6 months, both twins underwent release of multisuture (bilateral coronal and sagittal) fusions for improvement of scaphocephalic shape and multisuture release; however, one twin had a more aggressive procedure with advancement of the frontal-orbital region. Despite improved initial correction by one twin, at 5 years of age, both twins presented with midface hypoplasia and exorbitism and underwent a monobloc distraction procedure with similar 20-mm advancements. Comparative analysis by our cranio-facial multidisciplinary team included perioperative reports, computed tomographic scans, cephalograms, parent questionnaires, and physician surveys. Both twins had an improved confidence interval scores from 84 to 68 and 82 to, 69 postoperatively. In 6-month follow-up, the Whitaker score of the first twin was 2.8, whereas that for the second twin with the frontal-orbital advancement was 1.2. Preschool expressive and receptive tests yielded 97 and 95, and 97 and 98, and developmental testing was similar between the twins. Global evaluations were equivalent to age-matched controls, and memory and attention skills were within normal limits. Parental surveys showed a high level of satisfaction after all procedures in both twins. Our study demonstrates that the phenotypic outcome for both twins remained unchanged when comparing a more aggressive surgery to less aggressive surgery as an infant. The genetic mutation may have overridden the different surgical interventions," wrote E. Kohan and colleagues, University of California. The researchers concluded: "Both twins ultimately required 2 subsequent monobloc corrections." Kohan and colleagues published their study in the Journal of Craniofacial Surgery (Pfeiffer Syndrome Twins: Despite Improved Correction in One Twin, Growth Disturbance Results in Similar Need for Subsequent Monobloc Advancement. Journal of Craniofacial Surgery, 2009;20(3):811-815). For additional information, contact J.P. Bradley, University of California, Division Plast & Reconstruct Surgery, School Medical, Suite 465, 200 Med Plaza, Los Angeles, CA 90095, USA. The publisher's contact information for the Journal of Craniofacial Surgery is: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA. Keywords: United States, Los Angeles, Acrocephalosyndactylia, Craniofacial, Craniofacial Dysostosis, Craniosynostoses, Craniosynostosis, Neurology, Neurosurgery, Surgery, University of California. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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