Pfeiffer syndrome: premature fusing of the skull
As a baby develops in the womb, the cranium bones fuse together. In Pfeiffer syndrome, these bones combine too early. Pfeiffer disorder is an autosomal dominant condition classically combining craniosynostosis with advanced anomalies of the hands and feet. The cause of Pfeiffer disorder is a transformation of the genes capable for pre-birth bone development. This mutation speeds up bone development, causing the skull to fuse prematurely. Three forms of Pfeiffer disorder are recognized, of which types II and III are the more severe. Most affected people also have differences to their midface and conductive hearing loss. Treatment starts at birth once an accurate diagnosis is made. No medications can invert Pfeiffer disorder, but treatment can manage particular side effects of this condition. Typically, a child's skull bones would come together only after the head has come to its full size. The frequency of all types of Pfeiffer disorder is around 1/100,000.

Subdivision of Pfeiffer syndrome:

Type 1 Pfeiffer disorder is characterized by premature combination of the skull, finger and toe abnormalities, and sunken cheekbones. A child's neurological development and intellectual capacity are usually on a standard with other children.

Type 2 Pfeiffer syndromes have cloverleaf-shaped skulls, coming out from the excessive fusion of the cranium bones.

Type 3 Pfeiffer disorder causes the same kinds of disabilities as type 2, but for the cloverleaf skull. The outlook for individuals with type 3 Pfeiffer syndrome is also often poor and may result in early death.

The diagnosis of Pfeiffer disorder is based on the presence of craniosynostosis and abnormal thumbs and/or first toes. Children with Pfeiffer disorder often persevere different complex surgeries to repair skull and joint deformations.

Best Wishes 

Ellie Rose 
Email: rarediseases@healthcarevents.com

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