What is Craniosynostosis? The Simple definition of Craniosynostosis is the premature closure of an infant’s skull sutures. To understand this you first need to know what a skull suture is and its function.
Every human skull is comprised of separate boney plates held together by fibrous joints called sutures. These sutures are designed to allow the skull to pass through a narrow birth canal as well as allow the brain to grow through several growth spurts in a child’s life. Aside from the Metopic these skull sutures are never intended to fully close. When a child is born with Craniosynostosis premature closure of these fibrous joints halts brain growth in the direction of the fused suture. As, the rapidly growing brain continues to push against all open sutures the skull will contort to accommodate the brain resulting in an abnormal head shape. Although, many infants are born with an abnormal head shape, due to the trip through the narrow birth canal, most will correct themselves within six weeks following the birth. When an abnormal head shape persists or is not noticed until after six weeks, it is important to determine the cause. Awkward head shapes can be a sign of either Craniosynostosis or Positional Plagiocephaly.
Craniosynostosis happens one in 2000 births, there is no increase in the rate according to race or sex, and a child with a syndromic form of Craniosynostosis has a 50/50 chance of passing the birth defect onto their future offspring. Craniosynostosis can happen to anyone, anywhere and it is NOT a cosmetic concern as 80% of the brain growth occurs rapidly in the first 18 months of life. Fusion of one or more of the skull sutures can significantly restrict the skull’s ability to expand as the brain grows, and this restriction can cause pressure on the brain which may or may not have lasting affects.
A few warning signs of Craniosynostosis are:
- Irregular shaped head that persist after 6 weeks of age or awkward head shape that appears to worsen as the child grows (Craniosynostosis is a progressive deformity which means as the skull grows the deformity will increasingly worsen.)
- a palpable ridge along the skull where the suture has closed
- a full or bulging soft spot(fontanel)
- an absence of or smaller than normal soft spot(fontanel)
- Scalp veins may be very noticeable
- poor feeding
- Increased or decreased head circumference
Some more rare but possible severe warning signs can occur if intracranial pressure is present:
- becoming sluggish, sleeping more, and playing less
- Increased irritability or a high-pitched cry (L’s was blamed on Colic)
- Developing swollen eyes or problems moving the eyes or following objects
- Hearing problems
- Projectile vomiting
- Development delays
- Breathing noisily or have periods of not breathing (apnea)
When the pressure is very severe, it may cause brain damage and other problems, including hydrocephalus (increased fluid on the brain), seizures, blindness, and developmental delays. Untreated Craniosynostosis can cause lasting disabilities.
With all this information you might find yourself marveling at the fact that more people haven’t heard about neither Craniosynostosis nor positional Plagiocephaly. Craniosynostosis is after all a birth defect that happens one in 2000 births while positional Plagiocephaly is on the rise with 2 out of every ten babies developing it. Although relatively common when you take into account the number of infants born daily across the world, (Approximately 216000 take into account one of every 2000 are born with Craniosynostosis approximately 108 can be affected with Craniosynostosis in one 24 hour period), Craniosynostosis is sometimes sighted as a rare disorder and awkward head shapes are sometimes disregarded as something that will fix themselves with time. For many the awkward head shape is something that should be seen quickly by a craniofacial specialist to assure the risk of lasting complications are minimal.
If you notice something isn’t right with your child’s appearance and you your gut is telling you something seems off then more than likely it is.Your first step should be to discuss with your child’s physician your concerns. With most insurance you will need a referral to see the proper specialist. However, your child’s physician is not trained specifically to diagnose neither Craniosynostosis nor positional Plagiocephaly, andan appointment with an Experienced Craniofacial Specialist needs to be made. More than likely CT Scans & MRIs will need to be ordered, your child’s physician might suggest ordering x-rays but X-rays don’t always catch the fused suture. X-rays will show if sutures are present, but they will not show the suture in enough clarity to catch if fusion has begun or not. Only a craniofacial specialist should be allowed to diagnose or dismiss Craniosynostosis. CT Scans and MRIs are still common, however, as more is becoming understood about Craniosynostosis some more experienced craniofacial specialist can tell upon physical assessment if your child’s condition is in fact Craniosynostosis.
The Type of Craniosynostosis your child has is named after the skull suture that is closed and each shape is unique to the skull suture(s) affected. There are several different operations that can be performed according to which suture(s) are fused, the age of the child, the severity of deformity, and the craniofacial team chosen for your child. The only correction for Craniosynostosis is surgery to release the fused suture(s) and correct the shape of the skull. Repositioning and molding helmets can not help and may even worsen the severity of deformity.
The different sutures and description of the awkward head shape when one or more sutures fuse are as follows:
The Metopic suture begins at the nose and continues to meet the Saggital suture. Metopic Craniosynostosis results in a narrow, triangular forehead with pinching of the temples laterally (trigonocephaly).
The Metopic Suture is the first and only suture which normally fuses early in childhood (normally around 6 to 8 mths but in some cases as early as 3 months.) Metopic Craniosynostosis is one of the least common forms of Craniosynostosis. However, sometimes the early fusion of the Metopic suture will cause a Metopic ridge with no trigonocephaly. In cases of a Metopic ridge surgical intervention may not be needed. If your child has a Metopic ridging with no trigonocephaly parents should be sure to consult a craniofacial specialist. Even if they are advised to be wait and see its best to research and ask questions.
In true Metopic Craniosynostosis with the evidence of trigonocephaly (a triangular forehead and narrowing to the skull), whether this narrowing is mild or severe, many experienced surgeons will recommend that the infant’s skull should be surgically repaired.
The Saggital suture runs from the front of the head to the back of the skull. Fusion of the suture results in a long, narrow skull which may or may not include bulging of both the front and back of the head. The shape of a skull affected with Saggital Craniosynostosis is also known as scaphocephaly. Saggital Craniosynostosis is the most Common form of and estimated to happen one in 1000 births.
It is thought that disproportion in the size of the pelvis of the mother and the size of the fetal head can cause Saggital Craniosynostosis. The limited room for growth is thought to bring the two parietal bones together too early creating the synostosis in the pelvis before birth. This is why Saggital Craniosynostosis is often seen in first pregnancies. Also, boys have larger heads and that is why it is thought more boys than girls are affected with Saggital Synostosis.
Even with these thoughts on Saggital Craniosynostosis there is nothing that an expectant mother can do to prevent Craniosynostosis. There is still not enough known about Saggital and any other form of Craniosynostosis. Research is still being discovered for the causes of premature suture closure.
The coronal sutures begin at the ear and continue superiorly to the top of the skull to meet the Saggital suture. One or both sutures may be involved.
When one suture is fused that is known as Unilateral (left or right) Coronal synostosis. The shape of the head is sometimes referred to as Plagiocephaly (which should not be confused with positional Plagiocephaly.) The forehead on the effected side is flattened and swept back with the eye in its socket. Unilateral Craniosynostosis can give the appearance that one eye is wider open then the other which is caused by the lack of orbit around the affected eye.
When both sutures are fused that is known as bicoronal synostosis. The head is short and wide with the head shape being referred to as brachycephalic. There is a lack of growth with both eye orbits which can cause bulging of the eyes. The back of the head might appear flat with a bulging of the skull around the ears. The skull tends to tower upwards as it continues to grow.
The Lambdoid suture is located on the back of the skull. It has a right and left side and is shaped like an upside down “V.
One key marker for fusion of the Lambdoid suture is a low bump behind the ear on the same side as the fused suture. Another good way to determine if the Lambdoid suture is closed is to look and see if the ear on the same side as the posterior skull flatness is pulled backwards and sticks out more. If the ear is forward on the flat side, with respect to the opposite ear, then a skull deformation should be suspected instead of a fused suture. When viewed from above, the affected side of the back of the head is flatter than the opposite side.
Lambdoid Craniosynostosis is the rarest form of Craniosynostosis and fusion of both Lambdoid sutures is rarer. The diagnosis of Lambdoid synostosis is the most difficult to make because on plain skull x-rays the Lambdoid suture is frequently misdiagnosed as being fused shut. Ideally, the diagnosis of Lambdoid synostosis is made by CT scans, read at an experienced center.
Also known as Kleeblattschadel. Premature fusion of the coronal, Lambdoid and posterior Saggital sutures results in a cloverleaf skull. This is the rarest form of Craniosynostosis and evidence of closure will be obvious at birth. Due to the severity of multiple sutures being fused children with Cloverleaf should be closely followed by pediatric neurosurgeons, pediatric craniofacial surgeons, and a team of doctors to follow up through childhood and possibly adulthood.
If not Craniosynostosis what else could an awkward head shape signify?
The key difference between Positional abnormalities and Craniosynostosis is with positional abnormalities the skull sutures are all open and flexible, brain growth is not restricted and is not thought to cause any kind of damage to the brain. However, increasing evidence is finding that many problems can arise with untreated positional abnormalities (especially when facial asymmetry is present). These problems are as follows:
- problems with chewing and eating
- difficulty with vision, which, if severe enough could require corrective surgery and repair
- (TMJ) temporormandibular joint syndrome
- possibility of psychological disturbances due to an abnormal appearance that can last well into childhood and even adulthood(remember what can be covered up with hair as a child might later reveal itself as hair thins with older age. As parents we tend to forget our boys might be bald one day.)
Positional Deformity is caused by outward pressure or constraint on the skull whereas Craniosynostosis is an inward physiological occurrence. There are several factors that can lead to Positional Deformity and are as follows:
- In utero constraint: multiple babies in one pregnancy, small maternal pelvis,
inappropriate amount of amniotic fluid, or breech position, can all cause constriction in the womb while the fetus is still developing. This constraint can lead to positional abnormalities.
- Prematurity: a premature infant has a very soft and malleable skull which makes it more susceptible to outward molding.
- Back Sleeping: in 1992 the American Academy of Pediatrics launched the “Back to sleep Campaign” which significantly dropped the amount of infant mortality due to SIDS (sudden infant death syndrome) yet it significantly raised the amount of positional abnormalities. Parents were not given enough information regarding back sleeping and how the infant’s sleeping position should be alternated to prevent constant sleeping on the same side, nor were parents informed of the importance of “tummy time” during play. Consequently, because of the fear that many parents have regarding SIDS, many infants spent almost 100% of their time on their backs. Between infant car seats, infant carriers, bouncy seats, infant swings and sleeping on a mattress at night an infant spends little or no time without external pressure applied to the back of the head which leads to a high susceptibility to Positional Plagiocephaly.
- Congenital Muscular Torticollis (CMT) aka Tort: is a condition that is usually caused by one or more of the neck muscles being twisted or shortened. Without diagnosis and physical therapy to work and stretch the neck muscles an infant will tend to tilt or turn their head in one direction. The tendency to lay in the same direction can cause flattening on one side of the back of the head
There are three types of positional deformity. Most common is Positional Plagiocephaly which is used to describe all three forms of positional deformities with each being named after the shape of the infants head. The Positional deformities are as follows:
One Side of the back of the head is flattened and is most commonly accompanied by a prominent (bossed) forehead opposite the side of the flattening. The ears will also be misaligned with the ear on the affected side most commonly being pulled forward and down & can also appear larger than the unaffected ear. Facial asymmetry will more than likely be present and can include:
- a fuller cheek on the effected side
- a more prominent(bossed) appearance of the effected side of the face
- a jawbone that is tilted
- one eye that appears displaced or mismatched in size
The entire back of the head is flat in the back. The entire head can appear wide and flat. There may be a bulging behind both ears as well as a fuller more prominent forehead. Positional Brachycephaly is most often present when a child sleeps entirely on the back of his/her head.
The head is long and narrow. Prematurity or positional molding from a breach infant’s head being stuck under the mother’s ribs in utero can be contributing factors for scaphocephaly.
If your child develops a flattened area on their head the first line of defense is to get the baby off that flat area as much as possible. Remember “Back to Sleep and Tummy To Play”. Limit time spent in swings, strollers, and car seats.
A few good suggestions
- reposition the baby when he/she sleeps to keep him/her off the flat spot of their head while still keeping them on their back to sleep.
- invest in a front carrier pack instead of a stroller
- place toys or mobiles to attract baby’s attention and turn off the flat side
- my personal favorite using repositioning pillows to help with tummy time. However it must be stressed that the best way for a baby to sleep and nap is on their back with no extra pillows, blankets or bumpers in the bed
Repositioning works best if the deformity is caught before six months of age. (Repositioning will not work with Craniosynostosis because a fused suture is not open and pliable no amount of outward pressure will move a suture that is fused.)
If you believe your child has tort a qualified specialist can work you through repositioning and stretching exercises.
What if repositioning does not work? What are a parent’s options if the positional deformity is severe?
First let me put your mind at ease. In cases of positional deformity (unlike true Craniosynostosis) surgery rarely needed when caught before the first year of age. Best results for remolding occur before the one year birthday because 80% of the skull’s growth takes place in that time period.
The debate on the need for treatment can be a bit conflicting between doctors. Some insist that positional deformity will correct on its own once the infant can move around more and sit up which gets pressure off their head as it grows. This can be true of mild cases but moderate to severe positional deformity will need intervention for correction.
In these Cases Molding Helmets can be used.
A molding helmet works best when started around 5 months of age and some can be used as late as 18 months of age.
The original molding helmet was introduced in 1979 with the basic idea that if you surrounded an asymmetrical skull with a symmetrical helmet the skull would then grow into the more “normal” and symmetrical shape. Although, Archaeological diggings in burial sites in Cebu, Samar, Bohol and other places in the Philippines have found dozens of skulls that clearly show the physical effects of molding or binding.
An alternative technique to molding helmets is one which takes a more proactive approach to correction. The design of these helmets provides a gentle pressure to the area where growth is not wanted while leaving space for the skull to grow in areas where it is wanted. With this technique the child is seen on a weekly to biweekly basis to have adjustments made to the band to ensure proper growth of the head and optimum correction of the deformity.
There is a large variety of helmets and bands available today but many take on this proactive approach. Also, they are all light-weight, and all are custom made to fit each infant’s head. A specialist will be able to help parents decide which helmet to use. Parents are encouraged to be sure to thoroughly research each style offered to find out the success rate.
If your child is placed in a helmet most are designed to be worn 22 to 23 hours a day with one or two hours off for cleaning and resting the skin. The amount of months a helmet will be needed is dependant on the severity of the child’s positional deformity. Some cases have been minor enough to have treatment completed in 2 to 3 months while others have been severe enough to require a second helmet and treatment. The average time is typically 2 to 6 months.
Parents should be aware that their gut instinct will tell them if something is amiss. They know their baby best regardless of other’s opinions which may or may not be from a professional. With both Craniosynostosis and positional Plagiocephaly the treatment options and outcome is more favorable if the condition is caught and treated earlier than later. Both conditions can be a highly stressful time for family which can lead parents to feel isolated. Families should know that as we strive to further educate and raise awareness with the general public several online communities exist to provide comfort, friendship, and information. I’ve included a few online references for families to begin their search www.beyondaglimpse.com, www.CAPPSKids.org, www.Craniokids.org/support, and www.alexandrasphate.org/ . However, families of more severe facial or skull abnormalities might find solace with several other causes outlined on my support page www.beyondaglimpse.com/support.