Pfeiffer syndrome
Dernière mise à jour 18 Aug 2020
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Pfeiffer syndrome is a genetic disorder characterised by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
Description
Pfeiffer syndrome is a genetic disorder characterised by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.
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).
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. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Acrocephalosyndactyly, type V
ACS V
ACS5
Craniofacial-skeletal-dermatologic dysplasia
Noack syndrome
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Lectures complémentaires et références
- Pfeiffer syndrome; MedlinePlus, National Library of Medicine.
- Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671.
- Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
- Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979.
- Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be.
- Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry. 2005 Jul;76(7):352-62. doi: 10.1016/j.optm.2005.05.002.
- Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19.
- Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. doi: 10.1002/ajmg.10775.
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