Description, Causes and Risk Factors:
Disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal-dominant inheritance caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2 gene on 10q.
Pfeiffer syndrome is a rare genetic condition affecting primarily the skull and facial bones. It leads to craniosynostosis and underdevelopment of the facial bones. Studies have shown that Pfeiffer syndrome occurs in approximately one in 100,000 births.
Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.
Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.
In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Patients with Pfeiffer syndrome may also manifest upper airway obstruction related to mid-face hypoplasia and secondary nasal obstruction; tracheal anomalies have been infrequently reported.
The diagnosis of Pfeiffer syndrome is based on the presence of craniosynostosis and abnormal thumbs and/or first toes. Because of the large clinical variability even within the same family, molecular data may be an important complement to the clinical phenotype to confirm the diagnosis. Children with a suspected complex craniofacial syndrome should be referred for clinical genetic investigations including mutation analysis of FGFR1 (exon 7), FGFR2 (exon 8), FGFR2 (exon 10) and FGFR3 (exon 7).
Treatment of children with Pfeiffer syndrome is complex. It's aimed at correcting the skull and mid-face abnormalities as well as the obstructive sleep apnea.
Mid-face surgery: This surgery is usually done when your child is 6-8 years of age. The primary indications for performing a operation include severe obstructive sleep apnea which cannot be improved without surgery or significant concerns about the child's appearance.
Obstructive sleep apnea: Children with Pfeiffer syndrome frequently have obstructive sleep apnea due to the underdevelopment of the mid-face. As a result, your child should be monitored for sleep apnea by your Craniofacial team. In mild cases of sleep apnea, medications may be sufficient to improve breathing. If more significant obstruction occurs, tonsillectomy or continuous positive airway pressure (CPAP) masks may help alleviate symptoms. Sometimes, a tracheostomy may be required in infants with Pfeiffer syndrome to ensure adequate breathing.
Skull surgery: Most children with Pfeiffer syndrome will need two to four skull operations over a Lifetime. The earliest skull surgery is usually done in the first 18 months of life.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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