What is the cause of Crouzon syndrome?

What is the cause of Crouzon syndrome?

Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development.

What is the life expectancy of someone with Crouzon syndrome?

People with Crouzon syndrome have a normal life expectancy. Most children with this condition are unaffected intellectually. However, it can alter the shape of the face and cause vision and hearing problems.

When is Crouzon syndrome diagnosed?

How is Crouzon syndrome diagnosed? Crouzon 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.

Can Crouzon syndrome be inherited?

Crouzon syndrome is caused by alterations (mutations) in one of the FGFR genes, usually FGFR2, and is inherited in an autosomal dominant manner.

Is Crouzon disease hereditary?

How is Crouzon syndrome inherited? Crouzon syndrome is inherited in an autosomal dominant manner. This means that having a change ( mutation ) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

Can Crouzon syndrome be detected in ultrasound?

We report a rare case of prenatal diagnosis of familial Crouzon Syndrome by subtle 2D ultrasound findings of brachycephaly, proptosis with easily visible palpebrae, depressed nasal bridge and a beaked nose in a fetus at 32 weeks of period of gestation.

Is Crouzon syndrome the same as Pfeiffer syndrome?

The presence of normal appearing hands and feet distinguish Crouzon syndrome from Pfeiffer syndrome. Crouzon syndrome is an autosomal dominant genetic condition associated with mutations in FGFR2. (For more information on this disorder, choose “Crouzon as your search term in the Rare Disease Database.)

What is the treatment for Crouzon syndrome?

Treatment of Crouzon syndrome may include surgery. This is to improve symptoms, prevent complications, and help physical and mental development. If the fused sutures are causing intracranial pressure, this may lead to brain injury. This is treated with craniofacial or open vault surgery.

What causes Crouzon syndrome?

A mutation in the genes causes Crouzon syndrome, which may be passed from parent to child. Crouzon syndrome is genetic. It is not caused by anything that happens during pregnancy. The condition is caused by mutations in a gene called FGFR2.

What is Crouzon syndrome?

What is Crouzon Syndrome? Crouzon Syndrome describes a combination of birth defects that occur as the result of a mutation of one of the genes at the time of conception. The chief characteristic of Crouzon Syndrome is the premature fusion of the bones in the skull (also known as craniosynostosis) causing the face, head and jaw to become deformed.

Who discovered Crouzon syndrome?

French neurologist Louis E. O. Crouzon first described this condition in the early 20th century. People with Crouzon syndrome have a normal life expectancy. Most children with this condition are unaffected intellectually. However, it can alter the shape of the face and cause vision and hearing problems.