Pfeiffer syndrome

Pfeiffer syndrome is a form of congenital malformation disorder that affects the skull, hands, and feet. It is part of a group of conditions known as acrocephalosyndactyly. The syndrome is characterized by the early fusion of skull bones (bicoronal craniosynostosis), which can change the shape of the head, as well as various malformations in the hands and feet. People with this condition may also experience other associated features that vary in severity from person to person. These changes occur as part of a genetic condition that has a range of symptoms and physical signs, making each case unique in its presentation.

Common signs of Pfeiffer syndrome include the premature fusion of skull bones, which leads to an altered head shape, and malformations in the hands and feet. Other associated manifestations may also be present, although these can vary significantly among affected individuals.

Pfeiffer syndrome is linked to changes in specific genes, particularly FGFR2 and FGFR1. These genetic variations affect the normal development of bones and other tissues, leading to the range of features seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.