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.

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.

How do you fix 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.

Is Crouzon syndrome a disability?

The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes ( mutations ) in the FGFR2 gene and is inherited in an autosomal dominant manner.

Can someone with Crouzon syndrome have kids?

A parent with Crouzon syndrome has a 50 percent chance of having a baby that also has Crouzon syndrome. If you have Crouzon syndrome and wish to have children, our geneticist can meet with you to discuss the risks and help you make a thoughtful, informed decision.

Can Crouzon syndrome be detected before birth?

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 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 passed onto offspring?

Only one parent needs to have an abnormal gene for the child to inherit the disease. A person with Crouzon syndrome has a 50\% chance for each pregnancy of passing this mutation on to the child.

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.

Can you detect Crouzon syndrome in utero?

Genetic testing may be performed on a sample obtained by chorionic villus sampling (at about 10 to 12 weeks gestation), or by amniocentesis (usually performed at about 15 to 18 weeks gestation).

Crouzon syndrome affects about 5 percent of all babies with craniosynostosis. 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.

What is Crouzonodermoskeletal syndrome?

Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome.

What is craniosynostosis syndrome?

Craniosynostosis is a rare condition in which a baby develops or is born with an unusually shaped skull. It happens when one or more of the natural spaces in the infant’s skull join together too early before birth or after delivery. These spaces are known as cranial sutures.

What is chromosome duplication syndrome?

Summary Summary. Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals.