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.

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 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.

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 environmental factors can cause craniosynostosis?

It is suggested that craniosynostosis is caused by a heterogeneous set of effects including gene mutations, teratogenic exposure during critical periods of development, and gene/environment interactions.

Physiological Changes During Pregnancy

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.

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.

Is craniosynostosis life threatening?

Craniosynostosis can occur by itself or as a part of certain craniofacial (head and facial) syndromes. If left untreated, craniosynostosis can lead to serious complications, including: Head deformity, possibly severe and permanent. Increased pressure on the brain.

How do you fix craniosynostosis?

Do all babies with craniosynostosis need surgery?

Without treatment, children may have developmental delays. Helmet therapy or craniosynostosis surgery can release or reshape a baby's fused bones. With timely treatment, most children with craniosynostosis grow and develop in a healthy way.

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.

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.

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 see craniosynostosis on xray?

Yes..... however, Patients in whom craniosynostosis is suggested should undergo a careful clinical examination, with the clinician looking for abnormalities of the skull and extremities. Plain radiography quickly and simply identifies skull-shape abnormalities, which are seen in most patients with craniosynostosis.

Can craniosynostosis be cured?

Treating craniosynostosis usually involves surgery to unlock and bones and reshape the skull. Historically, craniosynostosis has been treated using surgical methods that involve an incision from ear to ear and the removal, reshaping, and reattachment of affected bones. Sometimes this is still the best option.

Can craniosynostosis be missed?

Martinez-Lage and colleagues documented two such cases in which the diagnosis of craniosynostosis was missed at birth due to negligible skull deformity [7]. Both patients presented years later with elevated ICP and underwent cranial expansion, which alleviated their symptoms.

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.

What are the signs of craniosynostosis?

This head shape is called scaphocephaly. Sagittal craniosynostosis is the most common type of craniosynostosis. Coronal. Premature fusion of one of the coronal sutures (unicoronal) that run from each ear to the top of the skull may cause the forehead to flatten on the affected side and bulge on the unaffected side.

When are babies diagnosed with craniosynostosis?

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.

Is craniosynostosis present at birth?

Craniosynostosis may be present at birth (congenital). Or it may be found later, during a physical exam. The diagnosis is based on a physical exam. This includes measuring your child's skull.

Can craniosynostosis cause learning disabilities?

In 2015, Dr. 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.

Does genetic testing detect craniosynostosis?

Researchers have found that mutations in certain genes are associated with the development of craniosynostosis in your baby. Genetic testing can be performed to evaluate your risk of having a baby with craniosynostosis.

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.

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).

How long does it take for a baby's skull to fuse?

It can take 9-18 months before a baby's skull is fully formed. During this time some babies develop positional plagiocephaly. This means that there is a flat area on the back or side of the head. Positional plagiocephaly does not affect brain growth or development; it is purely a shape issue.