What is the difference between Pfeiffer syndrome type II and normal intelligence?
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.
What is the prognosis for people with Pfeiffer syndrome?
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.
Is Pfeiffer syndrome dominant or recessive?
This type is inherited in an autosomal dominant pattern. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Type 2 includes a cloverleaf-shaped skull, due to extensive fusion of bones, as well as severe proptosis.
What are the symptoms of Pfeiffer syndrome type II?
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 the skull to have a "tri-lobed" appearance (called a "cloverleaf skull" deformity).
Does Pfeiffer syndrome affect the brain?
Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. This prevents the skull from growing normally, affecting the shape of the head and face and sometimes causing increased pressure around the brain.
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 many People have Pfeiffer syndrome?
Frequency. Pfeiffer syndrome affects about 1 in 100,000 individuals.
Who carries the gene for Pfeiffer syndrome?
Type 1 Pfeiffer syndrome is caused by a mutation in one or more genes that are part of a child's bone development. Only one parent needs to carry the gene to pass it down to their child, so their child has a 50 percent chance of inheriting the condition. This is known as an autosomal dominant pattern.
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.
Does Pfeiffer syndrome run in families?
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.
How long do kids 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.
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.
Can Pfeiffer syndrome be prevented?
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 syndrome causes large forehead?
Frontal bossing is an unusually prominent forehead. It is sometimes associated with a heavier than normal brow ridge. Frontal bossing is the descriptive term for a prominent forehead. Sometimes the brow (just above the eyes) is also heavier than normal as seen in acromegaly.
Why is it called Pfeiffer syndrome?
The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012). In 1964, Pfeiffer described eight individuals in three generations of a family who had abnormalities of the head, hands and feet (acrocephalosyndactylia) that were inherited in an autosomal dominant pattern.
Can you see Pfeiffer syndrome on ultrasound?
With development of ultrasound technology and application of 3-D ultrasound examination, prenatal diagnosis of Pfeiffer syndrome has been reported since 1996. However, craniosynostosis, limb, and visceral malformation are mostly be detected in the second or third trimester.
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 deformity did prince's son 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.
Why is it called Pfeiffer syndrome?
The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012). In 1964, Pfeiffer described eight individuals in three generations of a family who had abnormalities of the head, hands and feet (acrocephalosyndactylia) that were inherited in an autosomal dominant pattern.
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.
What are the features of Pfeiffer syndrome?
Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose.
How many people have Pfeiffer syndrome?
Pfeiffer syndrome affects about 1 in 100,000 individuals.
What is the effect of FGFR1 mutation?
A mutation in either the FGFR1 or FGFR2 gene alters the function of the respective protein, causing prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. Learn more about the genes associated with Pfeiffer syndrome. Expand Section.
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 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 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 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.
What is the cause of increased pressure in the brain?
In addition, this form of craniosynostosis is often associated with hydrocephalus, a condition in which the normal flow of cerebrospinal fluid (CSF) is altered, leading to abnormal widening (dilatation) of the spaces within the brain (ventricles) causing accumulation of CSF in the skull and increased pressure on the brain.
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 type of disease did Prince have?
The highly anticipated child, Amiir ("prince" in Arabic), was diagnosed at birth with Pfeiffer syndrome type 2 and died several days later.
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.
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 Pfeiffer syndrome?
Pfeiffer syndrome is a rare condition that affects 1 in 100,000 individuals and is caused by mutations in the FGFR1 or FGFR2 gene. Mutations in these genes alter protein function that result in premature fusion of skull bones, as well as abnormalities in the development on the hand and feet bones. There are three types of Pfeiffer syndrome.
How is Pfeiffer syndrome inherited?
Pfeiffer syndrome is inherited through an autosomal dominant pattern, meaning only one altered copy of the gene (from a single parent) is needed to cause the disorder, and it can be inherited from either parent. In a minority of cases, this disorder can be the result of a new mutation in the affected individual.
Can FGFR2 cause brain problems?
Individuals can have normal intelligence and lifespan. Types 2 and 3, associated with mutations in FGFR2, are more severe forms of Pfeiffer syndrome and often involve problems with the nervous system. The abnormal development of skull bones can limit brain growth, leading to delayed development and other neurological problems.
What is the difference between Pfeiffer syndrome and Pfeiffer syndrome?
Those with Types II and III Pfeiffer syndrome have more severe defects that can impair brain development and function. There is no specific treatment for Pfeiffer syndrome.
What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and other birth defects in the hands and feet. The abnormality of the skull bones causes changes in the shape of the face and head. There are three subtypes of the syndrome, with Types II and II being the most severe.
What are the types and causes of Pfeiffer syndrome?
There are three types of Pfeiffer syndrome, which is inherited as an autosomal dominant genetic disorder, meaning that only a single copy of an abnormal gene is necessary to cause the condition . The abnormal gene can be inherited from either parent or be a result of a new mutation (change in a gene) in the affected individual.
How is Pfeiffer syndrome diagnosed?
Pfeiffer syndrome is diagnosed by the presence of the characteristic birth defects. If the diagnosis is uncertain, genetic testing can be done to identify changes in the FGFR1 and/or FGFR2 genes.
What other disorders are related to Pfeiffer syndrome?
There is a spectrum of disorders associated with changes to the FGFR genes that results in facial defects. These conditions include Pfeiffer syndrome and the following:
What is the risk factor for Pfeiffer syndrome in the offspring?
Older age in the father is a known risk factor for acquiring Pfeiffer syndrome in the offspring due to new mutations.
What is the life expectancy of a person with Pfeiffer syndrome?
Most people with Type I Pfeiffer syndrome have a normal life span. People with Types II and III have severe disease and may develop complications that shorten their life expectancy.
Overview
Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes).
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FG…
Signs and symptoms
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 chil…
Cause
Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. These genes code for fibroblast growth factor receptors, which are important for normal bone development. 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.
Diagnosis
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:
• Type 1, also known as classic Pfeiffer syndrome, includes craniosynostosis and "midface deficiency". This type is inherited in an autosomal dominant pattern. Most individuals with type 1 …
Management
The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities.
Outcomes
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.
History
The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012). In 1964, Pfeiffer described eight individuals in three generations of a family who had abnormalities of the head, hands and feet (acrocephalosyndactylia) that were inherited in an autosomal dominant pattern.
Notable cases
• In 1996, a son was born to American musician Prince and his wife Mayte Garcia. The highly anticipated child, Amiir ("prince" in Arabic), was diagnosed at birth with Pfeiffer syndrome type 2 and died several days later. In 1997, after Garcia's former personal assistants raised concerns about the manner of death, the medical examiner performed an investigation and declared that the death was due to natural causes (meaning it was not a homicide).