PFEIFFER syndrome is an inherited syndrome of craniofacial dysmorphology or abnormal craniofacial appearance, which was originally described in 1964 and is now well recognised. Children who have Pfeiffer syndrome may demonstrate a range of symptoms varying in severity, from mainly cosmetic facial symptoms to those affecting breathing, feeding, vision and brain development. The child with Pfeiffer syndrome usually enters a co-ordinated programme of care involving many clinical specialities integrating their various expertise, which often continues from birth to the later teenage years.
Pfeiffer syndrome predominantly affects the appearance of the head and face. The hands and feet are also involved and may require surgical care.
The hands and feet are involved to a variable degree. The thumbs and big toes are broad and deviated towards the midline. There may be mild soft tissue webbing or syndactyly, between the second, third and fourth digits of either or both hands and feet. The digits may be short and misshapen with consequences for an adequate grip (hand) or footwear (feet). Anomalies of other systems have been described but are very uncommon.
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