What is the life expectancy of a child with Pfeiffer syndrome?

What is the life expectancy of a child with Pfeiffer syndrome?

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.

What are the causes of Pfeiffer syndrome?

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.

Can Pfeiffer syndrome be corrected?

Type 1 Pfeiffer syndrome is treatable with early surgery, physical therapy, and long-term surgery planning. Type 2 and 3 don’t happen very often. Like Type 1, they can often be treated with long-term surgery and reconstruction of your child’s skull, hands, feet, and other bones and organs that may be affected.

What does a baby with Pfeiffer syndrome look like?

Many babies with Pfeiffer syndrome have a flat forehead and a skull that is tall and narrow. Children with types 1 and 3 tend to have a tall, tower-shaped head (turribrachycephaly). Babies with type 2 Pfeiffer syndrome may have a “cloverleaf” skull shape that bulges out to the sides (also called Kleeblattschadel).

Who is at risk for 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.

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.

What does a child with Pfeiffer syndrome look like?

Can you detect Pfeiffer syndrome before birth?

The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported.

Does Pfeiffer syndrome cause mental retardation?

The disorder is characterized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

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.

How is Pfeiffer syndrome inherited?

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.