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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pfeiffer syndrome


Other Names for this Disease

  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
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Symptoms

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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.[1]
Last updated: 7/25/2014

References
  1. Robin NH. Pfeiffer syndrome. NORD. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/502/viewAbstract. Accessed 7/25/2014.


Other Names for this Disease
  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.