Pfeiffer syndrome
Definition
Pfeiffer syndrome is one of a group of disorders defined by premature closure of the sutures of the skull, resulting in an abnormal skull shape. People affected with these conditions, known as craniosynostosis syndromes, may also have differences in facial structure and hand and foot abnormalities. The defining features of Pfeiffer syndrome are abnormalities of the hands, feet, and shape of the skull.
Description
Pfeiffer syndrome is a complex disorder. Three subtypes of Pfeiffer have been defined based on symptoms. The syndrome is caused by a mutation (alteration) in either of two different genes. As the genes that cause craniosynostosis syndromes were discovered throughout the 1990s, scientists...
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