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Pfeiffer syndrome is a disorder that affects the development of 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. Pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features. Management typically includes various surgical interventions.
Source: GARD Last updated on 05-01-20
The presence and severity of features of Pfeiffer syndrome may differ depending on the type of Pfeiffer syndrome a person has. Type I is considered mild compared to types II and III.
In Pfeiffer syndrome type I , infants have craniosynostosis that causes the head to appear vertically elongated. Distinctive facial features 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. People with type I usually have normal intelligence and a good prognosis with a normal life span.
In Pfeiffer syndrome type II , people typically have more severe craniosynostosis, more severe hand and foot abnormalities, 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 is often associated with hydrocephalus, which causes increased pressure on the brain. Distinctive facial features may include an abnormally high, broad forehead; severe protrusion of the eyes (ocular proptosis); 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 (visceral anomalies). Infants with type II often have intellectual disabilities and neurological problems due to severe brain involvement. 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, but people 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, people with type III often have intellectual disabilities and severe neurological problems.
Last updated on 05-01-20
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