Pfeiffer syndrome is a genetic disorder rug results in abnormalities of the skull and facial bones as well as changes in the fingers and toes.
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Pfeiffer syndrome is a genetic disorder that results in abnormalities of the skull and facial bones as well as changes in the fingers and toes. Pfeiffer syndrome is inherited as an autosomal dominant genetic disorder, meaning that only a single copy of an abnormal gene is necessary to cause the condition. The abnormal gene can be inherited from either parent or be a result of a new mutation, change in a gene in the affected individual.
Treatment goals focus on reshaping the skull and correcting obstructive sleep apnea. At Children’s National, our treatment options include: Surgery on the skull before 18 months of age. Minimally invasive surgery for infants younger than 3 months to open skull sutures for normal skull and brain growth. Traditional surgery for infants 6 months or older to correct the skull’s shape. Surgery in later childhood to correct facial and jaw deformities, including obstructive sleep apnea. Surgery to correct problems with the fingers or toes. Speech therapy to help with speech and language development