Is craniosynostosis a rare disease?

Crouzon syndrome

Crouzon syndrome

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible.

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Crouzon syndrome - Wikipedia

is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant's head to grow and expand. Eventually, these bones fuse together to form the skull.

How common is craniosynostosis?

Craniosynostosis is common and occurs in one out of 2,200 live births. The condition affects males slightly more often than females. Craniosynostosis is most often sporadic (occurs by chance) but can be inherited in some families.

What percentage of babies are born with craniosynostosis?

Researchers estimate that about 1 in every 2,500 babies is born with craniosynostosis in the United States.

Is craniosynostosis serious?

If left untreated, craniosynostosis can lead to serious complications, including: Head deformity, possibly severe and permanent. Increased pressure on the brain. Seizures.

What is the life expectancy of someone with craniosynostosis?

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.

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Can a baby with craniosynostosis live a normal life?

Key points about craniosynostosis

Craniosynostosis usually occurs by chance. The first and only symptoms are usually changes in the shape of the baby's head and face. Surgery is usually the recommended treatment. Most children who have surgery early live healthy lives.

Does craniosynostosis get worse with age?

The deformity usually gets even more noticeable over time. The head shape depends on the location of the fused skull suture. For example, in the most common type, sagittal synostosis, the skull becomes long and narrow with a broad forehead and a pointy shape in the back.

Can kids with craniosynostosis play sports?

OBJECTIVE Craniosynostosis (CS) affects about 1 in 2500 infants and is predominantly treated by surgical intervention in infancy. Later in childhood, many of these children wish to participate in sports. However, the safety of participation is largely anecdotal and based on surgeon experience.

Can craniosynostosis cause retardation?

Chi-square analysis showed no significant differences between rates of retardation or learning disorders based on surgical status. Conclusions: Most children with nonsyndromic craniosynostosis obtain developmental quotients within the normal range in infancy.

Is craniosynostosis a major surgery?

All centers still offer traditional surgery, particularly for babies who are diagnosed at later ages or babies who have particular types of craniosynostosis with more extensive deformities. The surgery is immensely safer than it was in previous decades, but it is a longer overall procedure — it can take six hours.

Is craniosynostosis genetic?

In extremely rare cases, primary isolated craniosynostosis is genetic and in such cases is usually inherited as an autosomal dominant trait. Most cases of primary craniosynostosis that occur as part of a syndrome are also inherited as autosomal dominant traits.

Does craniosynostosis run in families?

Craniosynostosis is often noticeable at birth, but can also be diagnosed in older children. This condition sometimes runs in families, but most often it occurs randomly.

Why do babies get craniosynostosis?

Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby's skull development. These syndromes usually also include other physical features and health problems.

Is craniosynostosis genetic or environmental?

Craniosynostosis is thought to be caused by a combination of genetic and environmental factors. Some studies suggest that environmental factors such as smoking or taking certain medications during pregnancy may cause the condition to develop in the fetus.

At what age is craniosynostosis usually diagnosed?

Slight imperfections in your baby's head are normal, especially in the first month after birth. But as your baby grows, a misshapen head could be a sign of something else. The earlier you can get a diagnosis—ideally, before the age of 6 months—the more effective treatment can be.

Does craniosynostosis hurt?

In general, craniosynostosis is not a painful condition. However, if there is increased pressure on the brain, it can cause: Abnormalities affecting the face and hands. Headaches.

Can you get disability for craniosynostosis?

There is no disability listing for Apert syndrome among the Social Security Administration's (SSA's) impairment list.

Can craniosynostosis cause mental illness?

In unilateral coronal craniosynostosis, problems with intelligence, speech, learning, or behavior have been reported in 52% and 61% of children affected on the left and right sides, respectively⁶⁾.

Is craniosynostosis surgery safe?

The surgery is very safe and produces excellent results. There are several surgical options for treating craniosynostosis, depending on which type it is. It's usually best to perform surgery at just a few weeks to a few months of age, since the skull bones are the softest and most malleable then.

Can craniosynostosis cause speech delay?

They found that over half of the children with non-syndromic craniosynostosis had abnormalities speech and language development and that around one third needed to see a speech and language therapist. The cause of these speech and language delays isn't known.

How long does it take to heal from craniosynostosis surgery?

The bones will be healed 6 weeks after surgery but trauma to the head should be avoided. Parents sometimes notice small areas of swelling 8-12 months after surgery as the plates begin to dissolve. Patients undergoing surgery for craniosynostosis are typically seen annually by their surgeons until they are done growing.

Does craniosynostosis cause developmental delays or Behaviour problems?

Matthew Speltz's team published results indicating that school-age children with the most common form of craniosynostosis are more likely to suffer developmental delays and learning problems than children who don't have the disorder.

What is the success rate of craniosynostosis surgery?

The data support this: in 2020 alone, more than 50 craniosynostosis procedures have been performed, with a success rate of 99%, relatively fast recovery times, and hardly any complications.

Can craniosynostosis come back after surgery?

Re-synostosis after standard surgical procedures for nonsyndromic craniosynostosis is a rare event, which can occur at the same suture or rarely in adjacent sutures.

What syndromes are associated with craniosynostosis?

Syndromes most frequently associated with craniosynostosis include Apert, Crouzon, Pfeiffer, Carpenter, and Saethre-Chotzen [1]. Syndromic craniosynostoses are often sporadic and are the result of de novo autosomal dominant mutations involving fibroblast growth factor receptors (FGFRs) and TWIST genes.