Pfeiffer Syndrome | Diagnosis & Treatments

How we diagnose Pfeiffer syndrome

Pfeiffer syndrome is usually diagnosed at birth, based on the appearance of your child’s face and skull. Our expert craniofacial team will confirm a diagnosis of this condition and help you make decisions about your child’s care. A trained craniofacial surgeon and geneticist will evaluate your baby and may order an x-ray and/or a computed tomography (CT) scan to confirm the diagnosis. Genetic testing may also be done using a sample of blood or saliva.

How we treat Pfeiffer syndrome

Pfeiffer syndrome is complex and involves several parts of your child’s face, head, and limbs. Because Pfeiffer syndrome involves the skull and face, it can also affect your child’s hearing, feeding, speech, and dental functions. Your child may require several treatments and surgeries to repair these anomalies. These procedures are very successful.

At Boston Children’s Hospital, our dedicated team of specialists will provide your child with the broad range of treatment and follow-up care that this rare and complex condition requires.

Advanced treatments for Pfeiffer syndrome at Boston Children’s Hospital

Boston Children’s Hospital provides the most advanced treatments available for Pfeiffer syndrome and other craniofacial anomalies, including:

Minimally invasive skull repair: For many patients, our doctors can release bands of tissue that connect the bones of the skull (called sutures) through several small incisions — instead of traditional open surgery. Offered during the first few months of a child’s life, this procedure helps to correct the shape of the skull and provides room for the brain to grow. After this procedure, your child will be fitted with a special, temporary helmet to correct the shape of the skull.

Fronto-orbital advancement: If minimally invasive (endoscopic) treatment is not an option for your child, surgery to correct the skull can be provided when your child is between 9 and 11 months. During this procedure, our world-renowned plastic surgeons and neurosurgeons will work together to release the fused sutures and reshape the skull. They will use a zigzag incision technique, which helps camouflage the scar and makes the incision less visible.

Le Fort Advancements: These upper jaw surgeries correct abnormalities of the maxilla (upper jaw), including the way the teeth align. They involve sectioning (cutting) and repositioning the upper jaw to correct its abnormal position. Our advanced, 3-D imaging technology enables our surgeons to create a precise surgical plan for your child.

Distraction osteogenesis: A procedure that moves two segments of a bone slowly apart so that new bone fills in the gap. During this procedure, a surgeon makes a break (called an osteotomy) in the abnormal bone and attaches a device known as a distractor to both sides of the osteotomy. This distractor is gradually adjusted over a period of days to stretch the gap and enable new tissue to fill it in. This procedure often follows a Le Fort advancement procedure.

Airway treatments: If your child is born with a blocked airway as a result of this condition, our otolaryngology, sleep medicine, and/or pulmonary specialists will provide an expert diagnosis and an immediate plan for treatment. At Boston Children’s Hospital, airway obstructions can be treated in many ways. Our world-renowned surgeons offer the most advanced treatments available. These options include:

  • wearing a continuous positive airway pressure (CPAP) mask
  • tonsillectomy and/or adenoidectomy
  • midfacial advancement (also called a “Le Fort III”)
  • In severe cases, placement of a tracheostomy (a surgical procedure creating an opening through the neck into the windpipe) may be needed until your child is old enough to undergo other operations.

Dental Treatment: The abnormal shape of the face can also affect the position of the teeth and the occlusion (the fitting together of the upper and lower teeth when the jaw is closed). Many children have an under bite, as well as misaligned teeth. Delayed tooth eruption is also common. Your child should visit a pediatric dentist when the teeth start to come in — no later than 2 to 3 years of age.