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 Pfeiffer syndrome also affects bones in the hands and feet.
It is named after Rudolf Arthur Pfeiffer (b. 1931)[2][3] who, in 1964, described a list of features that included a coronal synostosis, turribrachycephaly (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]
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]
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.
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).
Classification
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.
- 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.
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". Zeitschrift für Kinderheilkunde (in German) 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.
- ↑ 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.
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