Other Names for this Disease
- Acrocephalosyndactyly, type 5
- Pfeiffer type acrocephalosyndactyly
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.
The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Robin NH. Pfeiffer syndrome. NORD. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/502/viewAbstract. Accessed 7/25/2014.