Users' questions

What does Pfeiffer syndrome do to the body?

What does Pfeiffer syndrome do to the body?

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.

What is Pfeiffer syndrome type 3?

Type 3. Your child may have severe or life-threatening forms of the symptoms of types 1 and 2. They won’t have a cloverleaf skull, but can have issues with their organs, such as the lungs and kidneys. Early skull bone fusion can lead to learning or cognitive disabilities.

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 causes Pfeiffer syndrome type 3?

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 you detect Pfeiffer syndrome?

Pfeiffer syndrome is usually diagnosed at birth, based on the appearance of your child’s face and skull. Our expert craniofacial team will confirm a diagnosis of this condition and help you make decisions about your child’s care.

Is Pfeiffer syndrome hereditary?

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.

Can Pfeiffer syndrome be detected before birth?

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

Can you detect Pfeiffer syndrome before birth?