Pfeiffer syndrome
| Pfeiffer syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 101600 |
| DiseasesDB | 32145 |
| MeSH | D000168 |
Pfeiffer syndrome is a rare 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.[1]:577 It is named after Rudolf Arthur Pfeiffer (1931-)[2][3] who, in 1964, described a list of features that included a coronal synostosis, turribachycephaly (high prominent forehead) and maxillary hypoplasia (eyes with a bulging appearance due to small underlying cheek bones). Pfeiffer syndrome affects about 1 in 100,000 births.[4]
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[edit] Genetics
Pfeiffer syndrome is strongly associated with mutations of Fibroblast growth factor receptor 1 and 2. These receptors are important for normal bone development.[5]
[edit] Presentation
Many of the characteristic facial features that Pfeiffer described in Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to eyes that appear to bulge (proptosis) and are wide-set (hypertelorism), an underdeveloped upper jaw, and a beaked nose. About 50 percent of children with Pfeiffer syndrome have hearing loss (see hearing loss with craniofacial syndromes), and dental problems are also common. Broad thumbs and toes are extra-cranial features of this syndrome.
[edit] Classification
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.
[edit] References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ synd/3477 at Who Named It?
- ^ Pfeiffer RA (1964). "Dominant Hereditary Acrocephalosyndactylia" (in German). Zeitschrift für Kinderheilkunde 90: 301–20. PMID 14316612.
- ^ Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155. http://www.ojrd.com/content/1//19.
- ^ Chan CT, Thorogood P (January 1999). "Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development". Pediatr Res. 45 (1): 46–53. doi:10.1203/00006450-199901000-00008. PMID 9890607.
[edit] External links
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