Pfeiffer Syndrome

Pfeiffer Syndrome is a very rare autosomal dominant genetic disorder characterized by the premature closure of the sutures and bones of the skull resulting in abnormal skull shape. It also may manifest big toes and broad and deviated thumbs with partial webbed features of the fingers and toes. It is named after Rudolf Arthur Pfeiffer who discovered the incidence of the symptoms in 1964. It occurs once in every 100,000 births with a 50% probability of passing to an offspring in carrier parents.

According to studies, this syndrome has no marked association with any activity during pregnancy. However, it has a marked link to children of older fathers. It is caused by the mutation of FGFR (fibroblast growth factor) 1 and 2 that plays an important role as a signaling mechanism in cell division and maturity.

Types and Associated Symptoms

The categories of this symptom are based solely on the severity of the associated manifestations:

  • Type 1 – they have the premature closure of the cranial bones and sutures, buried cheekbones, and finger and toe abnormalities like syndactyly or webbedness. Hydrocephalus is also a common symptom mostly with associated hearing loss. However, the functioning of the brain in this type is normal.
  • Type 2 – they have cloverleaf shaped skull due to a very complex premature closure of the bones that may lead to mental retardation and limited brain growth. They also have protruded eyes known as proptosis causing vision problems. They have toe and finger abnormalities and fusion of the elbow and knee joints known as ankylosis. Developmental delays are very common in this type.
  • Type 3 – they have similar symptoms of the second type except the cloverleaf skull.

Prevention

This is based slowly on genetic counseling because most symptoms are not found during prenatal screening. The disease is only diagnosed when the symptoms have already manifested and found which is after the birth of the child.

Treatment

There is no known cure for this disease that treatment is geared towards alleviating of the symptoms. Most care usually begins at birth with the diagnosis of the disease and continues on the identification of the needs of the child and options of proper treatment centers. Most cases require specialist care because of the interconnected symptoms that affect several parts of the body. A multidisciplinary craniofacial team would be needed to correct deformities in the skull and face through surgery. The team would usually be composed of neurosurgeon, dentist, plastic surgeon, orthodontist, otolaryngologist, audiologist, speech pathologist, geneticist and pediatrician. Such need and visits to these specialists may continue up to several years in the life of the child in order to achieve the nearest point to normalcy. Surgeries for the webbed fingers and foot as well as ankylosis of the joints of the knees and elbows may be necessary too.

Prognosis however is dependent on the symptoms manifested.  Those with type 1 Pfeiffer syndrome have a better chance of survival than those with type 2 and 3.