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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