Pfeifer Syndrome is a genetic disorder marked by the premature fusion of the skull bones (craniosynostosis) The early fusion prevents the skull from growing normally and hence it influences the shape of the head and face. There three types described.
- Type 1 is the classic syndrome which has all the features described below. Individuals with Type 1 have normal intelligence and a normal span of life.
- Type 2 and Type 3 are more severe conditions with problems of the nervous system and delayed mental development. Type 2 is characterized by cloverleaf shaped head which is caused by extensive fusion of the skull bones.
This condition affects 1 in 100 000 children.
- Facial features .
- Bulging and wide set eyes
- High forehead
- Under developed upper jaw
- Beaked nose
- Dental problems
- Hearing loss in at least 50 % of all children affected by this condition
- Vision problems
- Limb anomalies
- Thumbs and the big toes are wide and bend away from other digits on the hands and feet
- Unusually short fingers and toes ( brachydactyly)
- Webbing or fusion of digits (syndactyly)
Craniosynostosis is a condition in which one or more of the seams between the skull bones close prematurely, resulting in an atypical skull. As a result, the skull takes on a more vertical shape. A fusion of the sagittal suture is also possible (the seam that runs from the front to the back of the skull).
Midface hypoplasia refers to the midface’s slow growth. This results in a crescent moon or sunken face with a depressed nasal bridge and a beak nose. Reduced central face growth can lead to obstructive sleep apnea and other breathing problems. Syndactyly is a partial fusion of the second and third fingers that occurs on occasion.
The discrepancies between the thumb and great toe are the hallmarks of the syndrome.
Tracheal anomalies include the fusion of tracheal cartilages into a lengthy tube of solid cartilage or the narrowing of the trachea.
There is no link between what the mother did or did not do during the pregnancy. The FGFR genes play an important role in signaling a cell to divide or mature. A malfunction of this gene may therefore cause premature fusion of the bones of the skull, fingers or toes. Some studies show that Pfeiffer syndrome occurs more often in children with older fathers.
A malfunction in the genes that control how some cells grow and die causes Pfeiffer syndrome. A change in the baby’s genes appears to occur out of nowhere.
The care of children with Pfeiffer syndrome can involve many, complex surgeries which are best managed by a multidisciplinary craniofacial team. This team is composed of a neurosurgeon, plastic surgeon, dentist, orthodontist, audiologist, speech pathologist, otolaryngologist, geneticist and pediatrician. Team members should work closely to determine the best treatment plan.