Understanding Pfeiffer Syndrome: Causes, Symptoms, and Treatment Options

Creator: Doctronic
Published: 2024-03-27

Medically reviewed by Oghenefejiro Okifo | MD, Harvard Medical School | Henry Ford Hospital - Detroit, MI on March 27th, 2024.

Key Takeaways

Mutations in FGFR1 or FGFR2 genes cause premature fusion of skull sutures, with Type 1 cases having normal intelligence and Type 2-3 experiencing severe developmental delays and shorter lifespans.
Craniosynostosis surgery must occur before 18 months of age to prevent dangerous intracranial pressure buildup that can cause brain damage or developmental issues.
Physical features include turribrachycephaly (tower-shaped skull), proptosis (bulging eyes), midface hypoplasia, and broad thumbs with syndactyly affecting 2nd-4th fingers.
Inheritance follows autosomal dominant patterns, meaning affected parents have a 50% chance of passing the condition to each child, though 95% of cases result from new mutations.
Multistage surgical management includes early cranial vault reconstruction, potential tracheostomy for airway issues, and midface advancement surgery typically performed between ages 6-12.

Pfeiffer syndrome is a rare genetic disorder that affects the development of a baby's skull and face. This condition causes the skull bones to fuse too early, preventing the head from growing normally. As a result, children with Pfeiffer syndrome may have an abnormally shaped head, facial abnormalities, and other health issues. In this article, we'll explore the causes, symptoms, diagnosis, and treatment options for this rare birth condition.

Understanding Pfeiffer Syndrome: Causes, Symptoms, and Treatment Options

What Causes Pfeiffer Syndrome?

Pfeiffer syndrome is caused by a mutation in specific genes that control cell growth and death. This genetic change can be inherited from a parent or occur spontaneously during fetal development. The gene mutation affects the production and function of certain proteins, leading to premature fusion of the skull bones and other skeletal abnormalities.

Symptoms of Pfeiffer Syndrome

The signs and symptoms of Pfeiffer syndrome vary depending on the type and severity of the condition. Common symptoms include:

Head and Face

Abnormally shaped head (short from front to back)
High, wide forehead
Sunken midface (the area from the eyes to the mouth)
Wide-set, bulging eyes
Beaked nose with a downward curve at the tip
Very small upper jaw
Crowded, crooked teeth

Fingers and Toes

Short fingers and toes
Wide, bent thumbs and big toes
Webbed fingers and toes

Other Symptoms

Hearing loss
Dental problems
Feeding difficulties
Cleft palate
Joint stiffness
Developmental delays
Nervous system and brain development issues

Diagnosing Pfeiffer Syndrome

Pfeiffer syndrome can often be diagnosed during pregnancy using ultrasound or magnetic resonance imaging (MRI). After birth, doctors can usually diagnose the condition through a physical examination, focusing on the baby's skull shape, thumbs, and big toes. Additional tests, such as X-rays, CT scans, and genetic testing, may be performed to confirm the diagnosis and rule out other conditions.

Treatment Options for Pfeiffer Syndrome

Treatment for Pfeiffer syndrome depends on the type and severity of the condition, as well as the specific symptoms present. A multidisciplinary team of specialists, including doctors, surgeons, psychologists, and therapists, work together to provide comprehensive care. Treatment options may include:

Skull Surgery

Most children with Pfeiffer syndrome require multiple skull surgeries to relieve pressure on the brain, allow for proper brain growth, and improve the shape of the head. These surgeries are typically performed before the age of 18 months.

Midface Surgery

Some children may need midface surgery to correct jaw problems and bring the midface bones forward. This surgery is usually performed after the age of 6.

Treatment for Breathing Problems

Children with Pfeiffer syndrome may experience breathing difficulties due to airway blockages. Treatment options include using a continuous positive airway pressure (CPAP) mask, midface surgery, removal of tonsils or adenoids, or a tracheostomy (creating an opening in the neck to the windpipe).

Other Treatments

Dental work
Surgery to correct finger and toe problems
Hearing aids or surgery to improve hearing
Vision problem treatments
Speech and language therapy
Physical therapy to improve mobility

Life Expectancy and Long-Term Outlook

The life expectancy for individuals with Pfeiffer syndrome varies depending on the type and severity of the condition. Children with type 1 Pfeiffer syndrome generally have a normal life expectancy with proper treatment. However, those with types 2 and 3 may face more challenges and have a shorter lifespan due to complications related to breathing, brain development, and nervous system issues.

Early intervention and ongoing care are crucial for improving the quality of life for children with Pfeiffer syndrome. With the help of a dedicated medical team and supportive family, many individuals with this condition can lead fulfilling lives.

The Bottom Line

Early recognition and surgical intervention before 18 months is crucial for preventing life-threatening complications and optimizing developmental outcomes in children with this rare craniosynostosis condition. Type 1 patients generally achieve normal life expectancy with proper treatment, while Types 2-3 require more intensive management. If you notice abnormal skull shape or facial features in your infant, Doctronic can help connect you with specialists for rapid evaluation.