Not to be confused with Pfeiffer's disease (infectious mononucleosis) or Cardiocranial syndrome, Pfeiffer type.
Genetic disorder of the skull
Medical condition
Pfeiffer syndrome
Pfeiffer syndrome type 2 with cloverleaf-shaped skull and bilateral proptosis before and after surgery
Specialty
Rheumatology
Causes
Genetic[1]
Frequency
1 per 100,000 births[1]
Named after
Rudolf Arthur Pfeiffer
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2.[2]
There is no cure for the syndrome. Treatment is supportive and often involves surgery in the earliest years of life to correct skull deformities and respiratory function.[2] Most persons with Pfeiffer syndrome type 1 have a normal intelligence and life span; types 2 and 3 typically cause neurodevelopmental disorders and early death. Later in life, surgery can help in bone formation and facial construction.
Pfeiffer syndrome affects about 1 in 100,000 persons.[1] The syndrome is named after a German geneticist, Rudolf Arthur Pfeiffer (1931–2012), who described it in 1964.[3]
Pfeiffersyndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the...
Rudolf Arthur Pfeiffer (30 March 1931 – 1 June 2012) was a German geneticist. He discovered Pfeiffersyndrome in 1964. Pfeiffer was born in Saarbrücken...
The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffersyndrome. Craniosynostosis occurs when the fetal skull and facial bones...
classification type IV – Mohr syndrome (archaic) type V – Pfeiffersyndrome Noack syndrome incorporated into Pfeiffersyndrome classification A related term...
married on February 14, 1996. Their only child, Amiir, was born with Pfeiffersyndrome type 2 on October 16, 1996. He was unable to breathe without a ventilator...
along with middle ear disease is most commonly seen in patients with Pfeiffersyndrome; although, there have been reports of mixed hearing loss as well....
Look up pfeiffer in Wiktionary, the free dictionary. Pfeiffer may refer to: Pfeiffersyndrome, a rare genetic disorder characterized by the premature...
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Yildirim N, Alp A, Aydin M, Pfeiffer R, Burashnikov E, Wu Y, Antzelevitch C (July 2015). "High prevalence of concealed Brugada syndrome in patients with atrioventricular...
illustrator Andrew, who has Treacher-Collins syndrome. 5 April 2011 1.4 Katie meets Kayleigh, who has Pfeiffersyndrome, and George, who is undergoing surgery...
biogenesis disorder 1A (Zellweger) Pfeiffersyndrome Shprintzen–Goldberg syndrome Uruguay Faciocardiomusculoskeletal syndrome List of conditions with craniosynostosis...