What Is Pfeiffer Syndrome?
The condition affects one in 100,000 people and may cause skeletal deformities and respiratory problems.
Medically reviewed by Anita C. Chandrasekaran, MD
Pfeiffer syndrome is a rare genetic disorder affecting one in 100,000 people that causes skeletal deformities. People with mild symptoms typically have average lifespans. Others with severe abnormalities may have early deaths due to mental, neurological, and respiratory complications.
There are different types of Pfeiffer syndrome. Symptoms depend on the type but may include a beaked nose, bulging eyes that are wide-set, dental problems, and hearing loss. Early diagnosis allows for early treatment that may improve outcomes. Treatment may include surgery to correct abnormalities.
Read on to learn about Pfeiffer syndrome, including types and their symptoms, what causes this rare condition, and how to treat it.
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Types of Pfeiffer Syndrome
There are different types of Pfeiffer syndrome, depending on what signs and symptoms are present at birth. Healthcare providers classify Pfeiffer syndrome to predict intellectual disability and life expectancy. Type 1 typically causes mild physical abnormalities, while types 2 and 3 are more severe.
Type 1
Type 1, or classic Pfeiffer syndrome, causes mild physical abnormalities. Most people with type 1 will have an average lifespan and intelligence.
People with type 1 may have:
Brachycephaly, or low skull length-to-width ratio that causes a flat back of the head
Brachydactyly, or short fingers and toes
Broad big toes and thumbs
Dental problems
Hypertelorism, or wide-set eyes
Maxillary hypoplasia, or an underdeveloped upper jaw
Prognathism, or a bulging lower jaw
Syndactyly, or webbed fingers and toes
Type 2
Type 2 is one of the more severe types of Pfeiffer syndrome. The fusion of several bones in the skull causes the skull to have a "tri-lobed" appearance in infants. That deformity is known as cloverleaf skull or kleeblattschädel syndrome.
People with type 2 may develop other bodily deformities, such as:
A beak-shaped nose
Displaced ears
Hydrocephalus, which happens if fluid builds up in the brain cavities, causing brain damage
Immobile, stiff joints
Maxillary hypoplasia with proptosis, or bulging eyes
People with type 2 often have impaired mental and neurological development, resulting in normal to severe intellectual disabilities. Problems with the nervous system are also common.
Type 3
Type 3 presents similarly to type 2, though people with type 3 typically do not have cloverleaf skull deformity. People with type 3 have impaired mental and neurological development. Some infants with type 3 develop seizures.
Other type 3 signs and symptoms include:
Hydronephrosis, or fluid build-up in the kidneys
Natal teeth, or teeth present at birth
Pelvic kidneys, or kidneys that do not move upward from the pelvis during embryonic development
Proptosis
A short anterior cranial fossa base, or part of your skull base
An underdeveloped gallbladder
Related: What Are Congenital Disorders of Glycosylation (CDG)?
Pfeiffer Syndrome Symptoms
Pfeiffer syndrome causes various physical abnormalities often present during pregnancy and at birth. Some evidence suggests that facial and skull abnormalities may improve with age.
Pfeiffer syndrome signs and symptoms generally depend on the severity and type but may include:
A beaked nose
Broad, deviated big toes and thumbs
Craniosynostosis, or impaired skull growth affecting the head shape and causes bulging, wide-set eyes
Dental problems
Hearing loss
A high forehead
Short or webbed fingers and toes
An underdeveloped upper jaw
Impaired mental and neurological development may result from those physical abnormalities. As a result, many people with Pfieffer syndrome have intellectual disabilities ranging from normal to severe.
What Causes Pfeiffer Syndrome?
A mutation in one of two genes in prenatal bone development causes Pfeiffer syndrome. FGFR2 gene mutations commonly cause Pfeiffer syndrome. In some cases, the FGFR1 gene is the cause of type 1 but not type 2 or type 3. Both genes signal immature cells to become bone cells while an embryo grows. FGFR1 codes for fibroblast growth factor receptor 1, which is also crucial for neuron development in the brain.
As a result, bone production speeds up. Skull bones fuse prematurely, which limits or slows brain growth. The outcome is a misshapen skull.
Risk Factors
Pfeiffer syndrome is an autosomal dominant disorder, meaning either parent can pass the mutation onto their offspring. There is a 50% chance that each child will be born with the disorder if one parent has Pfeiffer syndrome.
The condition may result from a new mutation in which neither parent is a carrier. New mutations are responsible for nearly all Pfeiffer syndrome type 2 and 3 instances. Infants born to older fathers have an increased risk of those random genetic mutations.
Healthcare providers may suspect a fetus carries genetic abnormalities. Still, they may not know entirely until after childbirth.
How Is Pfeiffer Syndrome Diagnosed?
Early diagnosis of Pfeiffer syndrome is helpful for treatment. Healthcare providers typically diagnose Pfeiffer syndrome based on the presence of physical abnormalities. They may perform genetic testing to analyze any gene mutations in suspected cases of Pfeiffer syndrome.
Pfeiffer syndrome is usually apparent at birth. Sometimes, healthcare providers can use ultrasound to diagnose the condition during pregnancy.
Treatments for Pfeiffer Syndrome
Treatment largely depends on you or your child's symptoms. Surgeons may advise early reconstructive surgeries to correct face and skull concerns. For example, a tracheostomy may correct malformed airways.
Other treatments may include:
Hearing aids
Medical, social, or vocational services
Orthopedic measures
Physical therapy
Social support
Treatment often involves a team of healthcare providers, including audiologists; ears, nose, and throat specialists; neurologists; and pediatricians.
How To Prevent Pfeiffer Syndrome
Genetic counseling is the only preventative measure for Pfeiffer syndrome. A genetic counselor provides information about genetic conditions and their possible or previous effects on someone and their family. They can help a person address or identify concerns about factors that might affect fetal development.
Related Conditions
Research has found that Pfieffer syndrome may increase your or your child's risk of developing another condition.
Co-occurring conditions may include:
Chiari type 1 malformation: This happens if the bottom of the brain presses on and through a skull opening.
Hearing loss: This may occur due to repeat ear infections or an underdeveloped middle ear.
Obstructive sleep apnea (OAS): This disorder causes your breathing to stop and start several times while sleeping. Malformed airways reduce or stop airflow, resulting in OAS.
Vision problems: This results from increased pressure within the skull or muscle imbalances.
Related: What Is Hutchinson-Gilford Progeria Syndrome?
Living with Pfeiffer Syndrome
Pfeiffer syndrome can be challenging to manage, lowering the quality of life of people with the condition and their caregivers. Most people with type 1 have average lifespans, and the prognosis for intellect is usually good.
In contrast, infants with type 2 or 3 often develop life-threatening concerns, such as hypoxia (low oxygen level) due to breathing problems. Physical abnormalities may lead to complications during infancy if untreated. As a result, childhood death occurs most often with those types.
Early diagnosis during pregnancy and genetic counseling can help improve outcomes. For example, early surgery and treatment may improve cognitive function and prevent cooccurring conditions like OAS.
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