Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." Birth defects of the face and limbs are fairly... read more .)
Sutures of the Skull
The sutures are bands of tissue that connect the bones of the skull. The sutures allow the skull to grow as the brain grows inside.
The sutures are bands of tissue that connect the different bones that make up the skull. The skull is not a single bone. The sutures allow the skull to grow as the brain grows inside. They remain flexible for several years after birth and close and harden as the baby grows. After the sutures close, the skull cannot grow any more.
Craniosynostosis results when these sutures close too early, which restricts the ability of the brain and skull to grow to a normal shape and size. Craniosynostosis may occur spontaneously or may be caused by mutations in the baby's genes.
This defect occurs in 1 in every 2,500 babies. There are several types of craniosynostosis, depending on which suture is closed.
Craniosynostosis of the sagittal suture (the suture on top of the head running from the baby's fontanelle or soft spot to the back of the head) is the most common. This type of craniosynostosis results in a narrow and long skull (dolichocephaly). About half of children who have this type of craniosynostosis develop learning disabilities Learning Disorders Learning disorders involve an inability to acquire, retain, or broadly use specific skills or information, resulting from deficiencies in attention, memory, or reasoning and affecting academic... read more .
Craniosynostosis of the coronal sutures (the sutures running across the head to the left and right of the soft spot) is the next most common. This type of craniosynostosis results in a short and broad skull if the sutures on both sides of the soft spot are closed (brachycephaly) or in a diagonal skull if the sutures on only one side of the soft spot are closed (plagiocephaly). Children who have this type of craniosynostosis often have other defects of the face and skull.
Diagnosis of Craniosynostosis
A doctor's evaluation
Sometimes imaging tests such as CT scan
Sometimes genetic testing
Doctors can identify craniosynostoses during a physical examination.
Doctors may also do imaging tests of the skull and brain.
A baby who has craniosynostosis may be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes.
Treatment of Craniosynostosis
Sometimes use of a special helmet
Craniosynostoses are usually corrected with surgery. However, a baby who has very mild craniosynostosis may not need surgery. Sometimes, a special helmet can be worn to help mold the baby’s skull into a more regular shape.
Because abnormal genes may be involved in the formation of craniosynostoses, affected families may benefit from genetic counseling.