Why do babies get craniosynostosis?

The causes of craniosynostosis in most infants are unknown. Some babies have a craniosynostosis because of changes in their genes. In some cases, craniosynostosis occurs because of an abnormality in a single gene, which can cause a genetic syndrome.

What causes craniosynostosis during pregnancy?

Symptoms and Causes

Sometimes, craniosynostosis occurs because of a sporadic (random) gene mutation (change), or it may run in families. Prematurity is a risk factor for craniosynostosis. In other cases, some factors during pregnancy increase a baby's risk for developing craniosynostosis.

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.

Which factors increase the risk for craniosynostosis?

Craniosynostosis is a relatively common birth defect that does not always have a known cause. The condition may be associated with a genetic disorder, environmental risk factor, or a combination of the two. Maternal risk factors for craniosynostosis include thyroid disease, smoking, and the use of fertility treatments.

Can you fix craniosynostosis?

An x-ray or computed tomography (CT) scan can be used to diagnose craniosynostosis. Surgery is usually needed to correct it. Surgery frees the sutures that are fused. It also reshapes the brow, eye sockets, and skull as needed.

Craniosynostosis - Mayo Clinic

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 cause mental 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.

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.

Can craniosynostosis be detected before birth?

It is not typically detected during pregnancy and if so, usually not until the third trimester. How is it diagnosed? Craniosynostosis is most often diagnosed after birth when the infant's head shape is abnormal; however, it can occasionally be detected prenatally through ultrasound.

Do babies with craniosynostosis have trouble sleeping?

Results: Current sleep problems were reported in 19% of patients with single-suture craniosynostosis and 14% of controls (adjusted odds ratio = 1.6; 95% CI, 0.9 to 2.8). Ever having sleep problems was reported in 25% and 23% of cases and controls, respectively (adjusted odds ratio = 1.2; 95% CI, 0.7 to 1.9).

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.

What gene causes craniosynostosis?

Genes most commonly mutated in craniosynostosis are FGFR2, FGFR3, TWIST1 and EFNB1. As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3.

Is craniosynostosis a birth defect?

Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby's skull (cranial sutures) close prematurely (fuse), before your baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Can craniosynostosis be diagnosed in the womb?

Fetal craniosynostosis can be diagnosed through ultrasound (sonogram) when an asymmetry or bulge in the skull appears. Although it can be diagnosed through ultrasound, it may be difficult to detect. If it is found, it is usually not discovered until the third trimester.

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.

How long is recovery after 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.

How serious is craniosynostosis in babies?

Each baby born with craniosynostosis is different, and the condition can range from mild to severe. Most babies with craniosynostosis are otherwise healthy.

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.

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.

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.

How successful is 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.

How do you rule out craniosynostosis?

Imaging studies.

A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of your baby's skull can show whether any sutures have fused. Cranial ultrasound imaging may be used. Fused sutures can be identified by their absence — because they're invisible once fused — or by a ridging of the suture line.

Do babies with craniosynostosis cry a lot?

Sleepiness or baby is less alert than usual. Very noticeable scalp veins. Increased irritability or fussiness. High-pitched cry.

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.

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.