Pfeiffer syndrome


Type of disease: Rare conditions

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. Management typically includes various surgical interventions. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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