What is Pfeiffer Syndrome?
Pfeiffer syndrome is a rare genetic condition involving premature fusion of bones in the skull (craniosynostosis). Normally, the skull grows evenly at many fibrous joints (soft spots) as a child's brain grows. If one or more of these fibrous joints fuses too early, this causes a misshapen head and characteristic facial features that may be apparent during infancy. The facial features that are characteristic of Pfeiffer syndrome include a prominent forehead, wide-set eyes (hypertelorism), protruding eyes (ocular proptosis), and flattened mid-face (mid-face hypoplasia). Surgery may be necessary to allow the brain and eyes enough room to grow.
Pfeiffer syndrome also affects the bones in the thumbs, big toes and elbows. The thumbs and big toes may be wider than usual and point outwards. The fingers and toes may be shorter than average, and the 2nd and 3rd fingers and toes may be partially webbed. Children with Pfeiffer syndrome may have hearing loss and some have dental problems. Individuals who are more severely affected may have intellectual disabilities and neurological complications.
Pfeiffer syndrome is inherited in an autosomal dominant manner. It affects about 1 in 100,000 individuals.
If you think you or your child may have Pfeiffer syndrome, talk to your doctor about a referral to a specialist who is familiar with the condition.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/pfeiffer-syndrome-8710/overview/8914 • DATE UPDATED: 2016-06-14
Contact a ThinkGenetic Counselor
Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.