What happens if Pfeiffer syndrome is not treated early?
Children with Pfeiffer syndrome types 2 and 3 often have delayed development and other issues with the brain and nervous system. Without early treatment, they’re also more likely to have life-threatening health problems.
What are the different types of Pfeiffer syndrome?
There are three types of Pfeiffer syndrome, each with varying degrees of severity. Children with type 2 and 3 typically have nervous system issues; children with type 2 may also present with a cloverleaf-shaped head. Patients with Pfeiffer syndrome look very similar to individuals with Crouzon syndrome.
How is Pfeiffer syndrome diagnosed?
A diagnosis of Pfeiffer syndrome can be made while the fetus is still in the womb using ultrasound technology. A doctor will look to see whether the skull, fingers, and toes are developing normally. After the child is born, a diagnosis can easily be made if symptoms are visible.
Can people with Pfeiffer syndrome live a normal life?
People with type 1 Pfeiffer syndrome can have normal lifespans, provided they do not suffer from disease complications and undergo successful treatment. People with types 2 and 3 have severe forms of this disorder and tend to have shorter life expectancies due to respiratory problems and neurological complications.
How long do babies with Pfeiffer syndrome live?
Most babies do not die from Pfeiffer syndrome, and many babies with type 1 grow up to have a normal lifespan and normal intelligence, as per NORD. Babies with type 2 often experience impaired mental development and neurological problems and/or hypoxia due to problems with breathing.
Can people with Pfeiffer syndrome have kids?
Most parents who have a baby with Pfeiffer syndrome have normal genes. However, children with Pfeiffer syndrome can pass the gene on to their children. A parent with Pfeiffer syndrome has a 50 percent chance of having a baby who also has Pfeiffer syndrome.
Who is most likely to get Pfeiffer syndrome?
Advanced paternal age is associated with an increased risk for new mutations for Pfeiffer syndrome. The risk of passing the abnormal gene from an affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.
Do People with Pfeiffer syndrome have normal intelligence?
Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system.
Can Pfeiffer syndrome eyes be corrected?
There is no cure for Pfeiffer syndrome, but it can often be treated. The treatment for Pfeiffer syndrome depends on the type and the symptoms it's causing. The main treatment for Pfeiffer syndrome is surgery.
What is another name for Pfeiffer syndrome?
What is Pfeiffer syndrome? Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.
Is Pfeiffer syndrome seen on ultrasound?
With development of ultrasound technology and application of 3‐D ultrasound examination, prenatal diagnosis of Pfeiffer syndrome has been reported since 1996. 3 However, craniosynostosis, limb, and visceral malformation are mostly be detected in the second or third trimester.
Is Pfeiffer syndrome detected before birth?
The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported.
How do you get Pfeiffer syndrome?
Normally, the skull bones come together only after your head reaches it full size. But with this syndrome, the plates join together too early. The skull can't expand as the brain grows, which affects the shape of the head and face. There are three types of Pfeiffer syndrome.
Does Pfeiffer syndrome affect speech?
Children with Pfeiffer syndrome may have learning disabilities or developmental delay, most commonly affecting speech development. The hands and feet are also affected in Pfeiffer syndrome.
How is Pfeiffer syndrome diagnosed?
Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis.
Does Pfeiffer syndrome affect speech?
Children with Pfeiffer syndrome may have learning disabilities or developmental delay, most commonly affecting speech development. The hands and feet are also affected in Pfeiffer syndrome.
What condition did Prince's baby have?
Pfeiffer syndrome type 2Garcia explained that when their son was born on October 16, 1996, they discovered he had Pfeiffer syndrome type 2. Describing the effect of the genetic abnormality, she writes, “The premature fusing of the bones in the skull, sometimes resulting in 'cloverleaf skull,' in which the eyes are outside the sockets.
Is Pfeiffer syndrome seen on ultrasound?
With development of ultrasound technology and application of 3‐D ultrasound examination, prenatal diagnosis of Pfeiffer syndrome has been reported since 1996. 3 However, craniosynostosis, limb, and visceral malformation are mostly be detected in the second or third trimester.
Is Pfeiffer syndrome detected before birth?
The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported.
Why is Pfeiffer syndrome important?
It is important to see a surgeon with expertise in pediatric plastic and reconstructive surgery who specializes in treating this rare condition.
What is Pfeiffer syndrome?
Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. Craniofacial differences are similar to those seen in Apert syndrome.
What is the characteristic feature that distinguishes Pfieffer syndrome from other types of syndromic crani?
The characteristic feature that distinguishes Pfieffer syndrome from other types of syndromic craniosynostosis is the presence of the broad thumb and great toe. There are three types of Pfeiffer syndrome, each with varying degrees of severity.
What is the condition of Pfieffer syndrome?
Individuals with Pfieffer syndrome typically have the following conditions: Craniosynostosis: early closure of one or more of the seams between the skull bones, causing an abnormal skull. This results in a skull shape with increased vertical height.
What is the term for a partial fusion of the second and third fingers?
Syndactyly: occasional partial fusion of the second and third fingers. Broad thumb and great toe: differences of these digits are the hallmark of the syndrome. Tracheal anomalies: tracheal cartilages may be fused into a long tube of solid cartilage or the trachea may be narrowed.
What is the name of the syndrome that has a flat nasal bridge?
6-month-old with Pfeiffer syndrome. Note characteristic features of wide but short appearance of skull and tall appearance of forehead. The flat and low nasal bridge is also a characteristic of Pfeiffer syndrome.
What is Pfeiffer syndrome?
Listen. Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, ...
What is the difference between Pfeiffer syndrome type 1 and type 2?
People with type I usually have normal intelligence and a good prognosis with a normal life span. In Pfeiffer syndrome type II, people typically have more severe craniosynostosis, more severe hand and foot abnormalities, and additional malformations of the limbs. Infants with type II have a form of craniosynostosis that causes ...
How to find a doctor for a syphilis?
You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
What is the name of the deformity in the skull of a type II infant?
Infants with type II have a form of craniosynostosis that causes the skull to have a "tri-lobed" appearance (called a "cloverleaf skull" deformity). This is often associated with hydrocephalus, which causes increased pressure on the brain.
What Is Pfeiffer Syndrome?
Pfeiffer syndrome is a rare genetic condition affecting only about 1 in 100,000 newborns. It's a type of syndromic craniosynostosis where the bones of the skull and skull base grow together too soon. Children with Pfeiffer syndrome also may have abnormalities with their airway and their hands and feet.
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Types of Pfeiffer Syndrome
Type 1 is the mildest form of the disorder. However, Type 1 is still associated with craniosynostosis and facial growth problems.
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What is Pfeiffer syndrome?
Pfeiffer syndrome is an autosomal dominant genetic disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. Essentially all cases of Pfeiffer syndrome type II and type III have resulted from new mutations. Advanced paternal age is associated with an increased risk for new mutations for Pfeiffer syndrome. The risk of passing the abnormal gene from an affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.
What are the three forms of Pfeiffer syndrome?
Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious. Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the genes fibroblast growth factor receptor-2 ( FGFR2) and fibroblast growth factor receptor-1 ( FGFR1 ). Pfeiffer syndrome is now known to be a member of a group ...
What is the risk of mutations in Pfeiffer syndrome?
Advanced paternal age is associated with an increased risk for new mutations for Pfeiffer syndrome. The risk of passing the abnormal gene from an affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. Pfeiffer syndrome type I is associated with mutations in FGFR1 and FGFR2.
What are the symptoms of Pfeiffer syndrome type III?
Additional characteristics associated with Pfeiffer syndrome type III include a shortened base of the skull ( anterior cranial base); the abnormal presence of certain teeth at birth (natal teeth); severe protrusion of the eyes (ocular proptosis) due to abnormal shallowness of the bony cavities that accommodate the eyeballs (orbit); and/or various malformations of certain internal organs in the abdominal area (visceral anomalies). As in type II, individuals with Pfeiffer syndrome type III often experience impaired mental development and severe neurological problems and may develop potentially life-threatening complications early in life without appropriate treatment.
How common is Pfeiffer syndrome?
The incidence of all types of Pfeiffer syndrome is approximately 1/100,000.
Why do infants with Pfeiffer syndrome have difficulty breathing?
In addition, infants with Pfeiffer syndrome type II often experience impaired mental development and neurological problems due to severe involvement of the brain, and/or hypoxia due to problems with breathing.
Is intelligence normal in Pfeiffer syndrome?
Intelligence is usually normal. Pfeiffer syndrome type II is characterized by a more severe form of craniosynostosis (Cloverleaf skull), with more severe hand and foot anomalies and additional malformations of the limbs. In infants with Pfeiffer syndrome type II, premature closure of the fibrous joints ...
What causes Pfeiffer syndrome?
What Causes It? Pfeiffer syndrome is caused by a glitch in the genes that control how certain cells grow and die. It can be passed from a parent to child, but in most cases, the parents don’t have the syndrome. The baby’s genes have a change that seems to happen out of the blue.
How many types of Pfeiffer syndrome are there?
There are three types of Pfeiffer syndrome. All of them affect a child’s appearance, but types 2 and 3 are more severe. They can cause delays in development, as well as other issues with the brain and nervous system. Treatment starts soon after birth.
Why does Pfeiffer's syndrome affect the mid face?
But Pfeiffer syndrome also affects bones in the mid-face, from the eyes to the mouth, which don’t grow as far forward as usual . When your child has the condition, you might see: Fingers and Toes: It’s also common for children to have:
What type of surgery is needed for Pfeiffer syndrome?
Children both with Pfeiffer syndrome types 2 and 3 will need multiple surgeries for the reconstruction of the skull, hands and feet, and other joints, and treatment for affected organs. Children with type 1 are treated with early surgery and for physical and occupational therapies.
How to help children with Pfeiffer syndrome?
Early treatment and long-term physical and occupational therapy can help most children with Pfeiffer syndrome well into adulthood with only some complications and difficulties. Further, many children with this condition are able to play with their peers and go to school.
What are the complications of Pfeiffer syndrome?
Serious complications of Pfeiffer syndrome include respiratory problems and hydrocephalus . Breathing problems are generally related to trachea abnormalities or blockages in the midface. Hydrocephalus can lead to mental impairment if not treated. Further, facial deformities may cause severe displacement of the eyes and make it hard to close the eyelids. Children with type 2 and 3 may have seizures.
What is Pfeiffer syndrome?
A Word From Verywell. Pfeiffer syndrome is a rare genetic condition that causes premature fusion of the bones of the skull of a baby while in its mother's womb. The early fusion causes deformities of the head and face. There are three subtypes of Pfeiffer syndrome and all affect appearance, but types 2 and 3 cause more problems, ...
How many people have Pfeiffer syndrome?
According to the Genetics Home Reference page for the National Institutes of Health, Pfeiffer syndrome affects one out of every 100,000 people . Getty Images.
What is type 1 fusion?
It is a milder disease in comparison to types 2 and 3. Infants born with type 1 will have a premature fusion of the skull bones , called craniosynostosis.
What is the skull deformity of type 2?
Type 2. Infants born with type 2 will have more severe craniosynostosis. In type 2, the skull will have a cloverleaf skull deformity, where the skull has a tri-lobed appearance. This is likely due to fluid accumulation in the brain, called hydrocephalus. Facial features of type 2 may include a high broad forehead, severe eye protrusion, ...
What is the treatment for Pfeiffer syndrome?
Treatment is supportive and often involves surgery in the earliest years of life to correct skull deformities and respiratory function. Most individuals with Pfeiffer syndrome type 1 have a normal intelligence and life span, while types 2 and 3 typically result in neurodevelopmental disorders and early death.
What is the common problem with Pfeiffer syndrome?
In addition, there is an underdeveloped upper jaw ( maxillary hypoplasia ). More than 50 percent of children with Pfeiffer syndrome have hearing loss; dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits ( pollex varus and hallux varus ).
What are the characteristics of Pfeiffer syndrome?
Many of the characteristic facial features result from the premature fusion of the skull bones ( craniosynostosis ). The head is unable to grow normally, which leads to a high prominent forehead ( turribrachycephaly ), and eyes that appear to bulge ( proptosis) and are wide-set ( hypertelorism ). In addition, there is an underdeveloped upper jaw ( maxillary hypoplasia ). More than 50 percent of children with Pfeiffer syndrome have hearing loss; dental problems are also common.
What is the most widely accepted clinical classification of Pfeiffer syndrome?
The most widely accepted clinical classification of Pfeiffer syndrome was published by M. Michael Cohen in 1993. Cohen divided the syndrome into three possibly overlapping types, all of which are characterized by broad thumbs, broad great toes, brachydactyly and possibly syndactyly:
Why is paternal age considered a risk factor for Pfeiffer syndrome?
Advanced paternal age is thought to be a risk factor for sporadic cases of Pfeiffer syndrome due to an increase in mutations in sperm as men become older.
What is the difference between Pfeiffer syndrome type 2 and 3?
Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death.
How many births are affected by Pfeiffer syndrome?
Pfeiffer syndrome affects about 1 in 100,000 births. The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012), who described it in 1964.
How does Pfeiffer syndrome affect babies?
Pfeiffer syndrome affects about 1 in 100,000 babies, according to the National Institutes of Health, and is caused by a mutation in one of two genes involved in prenatal bone development. As a result of this mutation, bone production speeds up and bones in the skull fuse together prematurely. “In babies, the cranial bones ...
What is the chance of a child being born with Pfeiffer syndrome?
If one parent has Pfeiffer syndrome, there is a 50% chance that each child will be born with it. It can also be the result of a new mutation in which neither the mother nor the father is a carrier. According to the National Organization for Rare Disorders, new mutations are responsible for nearly all instances of Pfeiffer syndrome type 2 and type 3, and babies with older dads seem to be at increased risk of these random gene changes.
Do babies die from Pfeiffer syndrome?
Most babies do not die from Pfeiffer syndrome, and many babies with type 1 grow up to have a normal lifespan and normal intelligence. But many will also require extensive surgeries to correct their skeletal abnormalities and facial disfigurements, and some can also have hearing loss or dental problems.
Can a parent pass Pfeiffer syndrome onto their child?
Pfeiffer syndrome is what’s known as an autosomal dominant disorder, which means that either parent can pass the mutation onto their children. “But what is intriguing is that the mother or father may have very little symptoms and still carry the gene, while the baby is more severely affected,” says Dr. Cordero.
Can a baby have Pfeiffer syndrome?
So while doctors suspected the baby may have genetic abnormalities, they didn’t know for sure until he was born. Dr. Cordero says that this is the case with most Pfeiffer syndrome babies: the condition is difficult to diagnose via ultrasound, so most remain undiagnosed until birth.