What are the treatment options 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. The outlook for type 1 is much better than for types 2 and 3.
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.
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.
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.
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.
How long can you live with Pfeiffer syndrome?
How Dangerous is 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, as per NORD.
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 you detect Pfeiffer syndrome in the womb?
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 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.
Why does Pfeiffer syndrome happen?
Pfeiffer syndrome is caused by a specific mutation (change) in a gene called fibroblast growth factor receptor (FGFR1 or FGFR2). This gene is also involved in other craniofacial anomalies such as Crouzon syndrome and Apert syndrome. Experts do not know the exact cause of these gene mutations.
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 you diagnose Pfeiffer syndrome before birth?
Fetuses with type 2 or type 3 usually die in utero or in early infancy. With development of ultrasound technology and application of 3-D ultrasound examination, prenatal diagnosis of Pfeiffer syndrome has been reported since 1996.
What syndrome did prince's son have?
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.
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.
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.
Do patients with Larsen's syndrome go on to live normal lives?
Outlook. Children with Larsen syndrome live into adulthood and can lead normal lives with careful medical care. In some cases, individuals with Larsen syndrome may experience painful or dislocated joints. These individuals may need a hip or knee replacement in early adulthood.
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 early can Pfeiffer syndrome be detected?
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.
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.
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 happens if you don't treat early?
Without early treatment, they’re also more likely to have life-threatening health problems.
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.
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 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.
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 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.
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 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, ...
When do kids need midface surgery?
Midface surgery: Some children will need to have jaw and midface bones corrected. These surgeries are usually done when the child is a few years old.
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.
What is Pfeiffer syndrome?
Pfeiffer syndrome (OMIM 101600, also known as type 5 acrocephalosyndactyly, craniofacial-skeletal-dermatologic dysplasia, or Noack syndrome) is part of a family of syndromes characterized by acrocephalosyndactyly – the premature closure of skull sutures (craniosynostosis) that are separated into five types [1]. First described in 1964 by German geneticist, Rudolf Arthur Pfeiffer who noted eight individuals in three generations of a family with notable abnormalities of head, hands, and feet in an autosomal dominant inheritance pattern. Since his discovery, at least six additional Pfeiffer pedigrees and at least a dozen sporadic cases have been recorded, making Pfeiffer syndrome's incidence rate of 1 in 100,000 individuals [2], [3], [4]. Given the paucity of cases, there is scarce follow up data on patients [1]. Pfeiffer syndrome is genetically heterogeneous and caused by mutations in FGFR1 and FGFR2. It has been noted that both Pfeiffer and Crouzon syndrome, another member of the acrocephalosyndactyly family, are caused by similar pathological variant FGFR2 mutations [5], [6], [7]. Interestingly, there have been no reports of scoliosis in Pfeiffer syndrome, but there have been case reports of scoliosis in Crouzon syndrome, begging the question if the patient's craniosynostosis syndrome has been misclassified [8]. Due to this genetic and phenotypic overlap between Crouzon and Pfeiffer syndrome, patients with the same pathologic variant have been diagnosed as the other in the past. However, there are certain pathologic variants exclusively reported as Pfeiffer syndrome in medical literature [9]. Pfeiffer syndrome is subdivided into three broad phenotypes with overlap. Point mutations in Ser351Cys of FGFR2 meaning cysteine replacement of serine at amino acid codon 351 is associated with a more severe phenotype and decreased survival [10]. Type 1 (classic) is more commonly hereditary with sporadic cases reported while in type 2 and 3 only sporadic cases have been reported except for an exclusive type 2 pedigree. Type 1 is associated with FGFR1 or 2 mutations while type 2 and 3 are exclusively FGFR2 mutations. 2
What are the different types of Pfeiffer syndrome?
Pfeiffer syndrome can be subdivided into three subtypes with overlap: Classic or type 1 is the most mild with brachycephaly (flat head syndrome), midface hypoplasia, finger and toe abnormalities, normal lifespan and intellect, with good outcome post surgery. Type 2 is specifically characterized by trilobolated or cloverleaf skull, extreme proptosis, finger and/or toe abnormalities, elbow ankylosis and/or synostosis, beak-shaped nose, and developmental and neurologic complications (ie, hydrocephalus) due to limited brain growth. Type 3 is classified by the more severe abnormalities of type 2 but without the characteristic cloverleaf skull ( Table 1 ). Types 2 and 3 are characterized by shortened life expectancy due to neurologic and respiratory problems [4, 14].
Is Pfeiffer syndrome autosomal dominant?
Genetic counseling should be considered for affected patients prior to conceiving as Pfeiffer syndrome's autosomal dominant inheritance pattern results in 50% chance of transmission. Advanced paternal age is a noted risk factor for de novo or sporadic mutation [13].
How to treat craniofacial abnormalities?
These are done with fronto-orbital and Le Fort III advancement starting in the first year of life (as early as three months of age) with suturectomy to release the synostotic sutures and open up intracranial space for bone growth. The second stage involves mid-facial surgery to reduce exophthalmos and midfacial hypoplasia. If TCS is present, patients usually eventually require tracheostomy to treat the side effect of obstructive sleep apnea due to combined maxillary hypoplasia, choanal stenosis, and macroglossia. Cosmetic surgical repair can be done for other abnormalities relevant to each patient's phenotype. An interprofessional care team involving neurosurgery, pediatrics, plastics, and skilled nursing among others is the best approach for favorable patient outcome with a plan tailored to the individual patient's strengths and weaknesses [15, 16].
Is Pfeiffer syndrome detected in the prenatal period?
Pfeiffer syndrome is rarely detected in the prenatal period. As few as 6 cases have been identified prenatally, usually by ultrasound showing presence of cloverleaf skull deformity [11, 12]. Other sonographic signs include brachycephaly, acrocephaly, craniosynostosis, hypertelorism, and hand feet anomalies, but are not as reliably seen.
Is Pfeiffer syndrome a good prognosis?
As mentioned, type 1 Pfeiffer syndrome has a good prognosis with normal life expectancy and intellect, although long term follow up has been poor due to paucity of cases. This prognosis is assuming that the patient undergoes multiple staged surgeries starting within the first year of life. Type 2 and 3 Pfeiffer syndrome have poor prognosis with neurodevelopmental complications and childhood death being common. Severity of syndrome is the most relevant factor in prognosis. Craniofacial appearance improves with age. A study reviewing clinical course of seven children with type III Pfeiffer syndrome noted that even given severe manifestations, aggressive medical and surgical management can result in favorable outcomes [1, 14, 15].
Is Pfeiffer syndrome a rare disease?
Pfeiffer syndrome is a rare disease with both specific bony abnormalities and variant phenotypes from patient to patient that make it a distinct acrocephalosyndactyly syndrome. Given the paucity of follow up, this case provides a unique assessment of long-term viability of pediatric surgical modifications and the body's physiological adaptation to accommodate them. Imaging features consist of characteristic craniosynostosis patterns including brachycephaly, acrocephaly, or cloverleaf shaped skull, brain stem herniation, obstructive hydrocephalus, pelvic kidneys, compressed gallbladder, and hydronephrosis.
