Pfeiffer Syndrome

What is Pfeiffer Syndrome

Pfeiffer Syndrome is a genetic disorder whereby one’s skull bones prematurely fuse together while the head, face and brain are still growing and developing. Common characteristics of children with Pfeiffer Syndrome include abnormally shaped heads and faces and deformities of the toes and fingers.

Those with Pfeiffer Syndrome may have premature fusion of other bones in the body, particularly the fingers, ties, elbow and knees.

Common characteristics of Pfeiffer Syndrome include wide-set, bulging eyes, a beaked nose, under-developed lower jaw, short fingers and toes, webbing between toes and fingers, and wide and crookedly bent big toes and thumbs.

Pfeiffer Syndrome is divided into three types, with types 2 and 3 being the more severe types. Children with type 1 Pfeiffer Syndrome have facial and head deformities including bulging eyes and over-bites. These children have normal intelligence and can lead normal, long lives.

Children with type 2 or 3 Pfeiffer Syndrome experience severe symptoms that can greatly affect the length and quality of their lives. Both type 2 and 3 of Pfeiffer Syndrome include complications with the nervous system. The premature fusion of the skull plates can limit the growth of the brain can cause extreme pressure on the brain. These conditions often lead to delayed mental development and other neurological problems. Other conditions associated with type 2 and 3 Pfeiffer Syndrome include fusion of the elbows, knees and other joints and possible life-threatening breathing problems.

What distinguishes type 2 from type 3 is a cloverleaf-shaped head caused by excessive, improper fusion of the skull bones.

Pfeiffer Syndrome affects one out of 100,000 people. More than half of those with Pfeiffer Syndrome experience hearing loss.

Treating Pfeiffer Syndrome

In most Pfeiffer Syndrome cases, surgery is necessary to save a child’s life or make corrections to improve their quality of life.

Corrective surgery is highly recommended for children who have the less severe type 1 Pfeiffer Syndrome even if its purpose is to correct and improve the child’s appearance.

For type 1 Pfeiffer Syndrome patients, surgery may be recommended to correct head or facial deformities or to make breathing or hearing easier.

Children with the more serious type 2 or 3 Pfeiffer Syndrome may need surgery to stem potentially fatal brain pressure and excessive fluid in the brain. This surgery can also prevent further mental disability. The correction of the breathing passage through the nose may also be necessary to ensure healthy brain development and to save the child’s life.

Other corrective surgery may include those of affected joints to improve the child’s mobility.

Untreated Pfeiffer Syndrome

Pfeiffer Syndrome, especially type 2 and 3 can be fatal if proper, corrective treatment isn’t undertaken. Children with all three types of Pfeiffer Syndrome may experience potentially life-threatening breathing problems and impaired brain growth and development. Type 2 and 3 patients are also at risk of mobility problems due to the fusion of other bones in the body, and hydrocephalus (excess brain fluid), which can cause brain damage and nervous system issues.

Deformities of the face and head can cause the loss of hearing, and vision and dental problems as well as self-esteem and self-confidence issues later in life.

If not treated, severe cases of Pfeiffer Syndrome can lead to life-threating complications in infancy or early childhood.

Additional Information

Contact the Cleft & Craniofacial Institute of Utah today to set up a consultation with the doctor and discover your options for treatment.