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Pfeiffer syndrome

Other Names for this Disease
  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
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What is Pfeiffer syndrome?

What are the signs and symptoms of Pfeiffer syndrome?

What is Pfeiffer syndrome?

Pfeiffer syndrome is a disorder that affects the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. Other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. It is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. The syndrome is divided into 3 subtypes (types 1, 2 and 3) based on the presence and severity of signs and symptoms.[1] Management typically includes various surgical interventions.[2]
Last updated: 5/2/2011

What are the signs and symptoms of Pfeiffer syndrome?

The presence and severity of signs and symptoms of Pfeiffer syndrome differ depending on the type of Pfeiffer syndrome an affected individual has. Type I is mild compared to types II and III.

Infants with Pfeiffer syndrome type I have craniosynostosis that causes the head to appear vertically elongated. Other distinctive facial characteristics associated with type I may include a high, full forehead; underdeveloped mid-facial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), with a prominent lower jaw; and dental abnormalities. Affected individuals usually have normal intelligence and a good prognosis with a normal life span.

Individuals with Pfeiffer syndrome type II typically have more severe craniosynostosis, more severe hand and foot anomalies, and additional malformations of the limbs. Infants with type II have a form of craniosynostosis that causes the skull to have a "tri-lobed" appearance (called a "cloverleaf skull" deformity). This type of craniosynostosis is often associated with hydrocephalus, which causes increased pressure on the brain. Distinctive facial characteristics associated with type II may include an abnormally high, broad forehead; severe protrusion of the eyes (ocular proptosis); an unusually flat middle portion of the face (midface hypoplasia); a "beak-shaped" nose; and low-set ears. Infants may also have lack of mobility of the elbow joints and/or various abnormalities in some of the internal organs in the abdomen (visceral anomalies). Infants with type II often have intellectual disabilities and neurological problems due to the severe involvement of the brain. The physical abnormalities associated with type II can lead to life-threatening complications without appropriate treatment.

Pfeiffer syndrome type III is very similar to type II, the exception being that individuals with type II do not have the cloverleaf skull deformity. The features associated with type III may include a shortened base of the skull ; the abnormal presence of teeth at birth (natal teeth); ocular proptosis; and/or various visceral anomalies. As in type II, individuals with type III often have intellectual disabilities and severe neurological problems.[3]
Last updated: 2/15/2012

  1. Pfeiffer syndrome. Genetics Home Reference. February 2008; Accessed 5/2/2011.
  2. Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. September 27, 2007; Accessed 7/1/2011.
  3. Pfeiffer syndrome. NORD. September 19, 2008; Accessed 2/15/2012.