Pfeiffer syndrome: What’s Prince got to do with it?

Pfeiffer syndrome has been receiving increased media attention in the wake of Price’s recent death. Why? Because Prince lost a 7-day old son to Pfeiffer syndrome in 1996.

Pfeiffer syndrome is a rare condition that affects 1 in 100,000 individuals and is caused by mutations in the FGFR1 or FGFR2 gene. Mutations in these genes alter protein function that result in premature fusion of skull bones, as well as abnormalities in the development on the hand and feet bones.

There are three types of Pfeiffer syndrome.

Type 1 is caused by mutations in either the FGFR1 or FGFR2 gene and is considered the least severe. Individuals can have normal intelligence and lifespan.

Types 2 and 3, associated with mutations in FGFR2, are more severe forms of Pfeiffer syndrome and often involve problems with the nervous system. The abnormal development of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by more extensive fusion of bones in the skull, causing a cloverleaf-shaped head.

Pfeiffer syndrome is inherited through an autosomal dominant pattern, meaning only one altered copy of the gene (from a single parent) is needed to cause the disorder, and it can be inherited from either parent. In a minority of cases, this disorder can be the result of a new mutation in the affected individual. In such cases, neither parent carries the mutation or is affected, but they have a child with this condition.  

Genetic counseling by a certified professional is recommended for individuals who have Pfeiffer syndrome and their families.

 

Further Reading:

Genetics Home Reference

National Organization for Rare Disorders

 

Photo Credit: Scott Penner via Flickr