Pfeiffer syndrome

Pfeiffer syndrome is a genetic disorder in which skull sutures fuse prematurely, often with distinctive facial features and broad, deviated thumbs and big toes. Its effects range from mild to severe.

Craniosynostosis: Premature fusion of one or more fibrous joints between the bones of the skull. It is the defining skull abnormality in Pfeiffer syndrome.
Cranial suture: A fibrous joint between skull bones that permits skull growth during early development. Premature closure of these joints produces craniosynostosis.
Pfeiffer syndrome type 1: The milder, classic form of Pfeiffer syndrome, generally associated with normal intelligence and a favorable outcome. It contrasts with the more severe forms involving major brain or limb complications.
Genetic testing: Analysis of DNA to identify variants associated with inherited or acquired conditions. Testing FGFR1 and FGFR2 can confirm a suspected molecular cause.
Apert syndrome: A genetic craniosynostosis syndrome marked by fused skull sutures and fusion of fingers and toes. Both can involve FGFR2, but extensive syndactyly is more characteristic of Apert syndrome.
Fibroblast growth factor receptor: A family of cell-surface proteins that bind fibroblast growth factors and regulate development and tissue growth. Pfeiffer syndrome mutations affect members of this receptor family.
Metopic suture: The joint between the two frontal bones, extending from the nose toward the top of the skull. Its early fusion can contribute to characteristic forehead and skull shape.
Pfeiffer syndrome type 2: A severe form of Pfeiffer syndrome associated with cloverleaf skull and substantial complications. Cloverleaf skull and greater medical needs distinguish this type from type 1.
Prenatal diagnosis: Assessment of a fetus for a condition before birth using imaging or genetic tests. Ultrasound or targeted testing may identify Pfeiffer syndrome during pregnancy.
Crouzon syndrome: A genetic disorder causing craniosynostosis and distinctive facial features, usually without limb abnormalities. Broad, deviated thumbs and big toes help distinguish Pfeiffer syndrome.

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