Concern about abnormal head shape in infants is common. Infants born prematurely are at higher risk for cranial deformation (often dubbed “positional plagiocephaly”) than those born at term, though it occurs in about 20% of the latter and has become more common since the American Academy of Pediatrics instituted the “Back to Sleep” campaign in 1994. [Rogers: 2011] [Rogers: 2011] [Task: 2000]

Cranial deformation occurs in response to external forces either in utero or after birth, and sutures close normally. Craniosynostosis, involving premature closure of 1 or more of the cranial sutures, is far less common for both preterm and term infants but can look similar to some deformational abnormalities. Craniosynostosis is estimated to occur in 1:2500 infants. It is thought to be caused by combinations of genetics, bone, and epigenetic factors, with a small subset linked to a genetic syndrome. Maternal thyroid disease during pregnancy or prenatal use of clomiphene citrate, a fertility medication, is associated with increased risk of craniosynostosis. In addition to being sensitive to aesthetic concerns related to abnormal head shape, primary care clinicians need to be vigilant for abnormal brain growth and intellectual development that can occur with craniosynostosis.

ICD-10 Coding

Early referral of craniosynostosis is critical
Most of these are evident at birth or within the first 2-3 weeks of life after swelling from birth subsides. Positional deformities usually become increasingly evident in the weeks and months after birth and may have a normal appearance at birth.

Timing of anterior fontanelle closure
Be aware that 10% close by 3 months, 90% by 18 months. “If the shape is normal, ignore the fontanelle.” [Kestle: 2020] This means you do not need to refer for evaluation of early fontanelle closure unless head shape is abnormal. Consider evaluation for hyperthyroidism, hyperparathyroidism, hypophosphatasia, or rickets, as these can be associated with early fontanelle closure. [Dias: 2020]

Ridged sutures
If the overall shape is normal, but there are ridges on the sutures, then no referral is needed.

Imaging
Radiographs are not advised. Consultation with pediatric plastic surgery and/or pediatric neurosurgery prior to ordering CT imaging is prudent.

Prevention of deformation
Provide anticipatory guidance to parents of newborns about how to prevent deformation. In addition to routine safe sleep recommendations, encourage positioning the infant’s head to alternating sides during sleep. Stimulate the baby from all directions by arranging toys around the infant and approaching the infant from different sides. Encourage “tummy time” when awake and avoid extended time in bouncers and car seats.

Microcephaly
Defined as a head circumference <5%ile for age, microcephaly is almost never caused by craniosynostosis of a single suture but can occur in complex craniosynostosis. [Dias: 2020]

Differentiating craniosynostosis from deformational abnormalities requires a thorough history and physical of the infant. It also may require imaging. Since many infants will have deformational cranial abnormalities, the decision to image the infant using head computerized tomography (CT) may be best left to the specialist, perhaps reducing needless radiation exposure. [Siddiqi: 2020]

Normal Head Shape with Sutures

Differentiating Craniosynostosis from Deformational Abnormalities

Deformation of the head shape is quite common in infants, present in 20-50% of 6-month olds. [Dias: 2020] Flattening occurs when cranial expansion and growth are consistently resisted in one area of the skull by an external force. [Rogers: 2011] [Rogers: 2011] Limited independent head mobility in very young infants or those with congenital muscular torticollis contribute to the flattening. Growth of the cranium is most rapid in the first few months of life, and treatment is most effective in that time frame. Premature infants have more limited head mobility for longer than full-term infants, which may explain their higher frequency of deformational cranial abnormalities. This brief video reviews how to evaluate for torticollis: Torticollis Quick Screening Guide by Lisa Hwang, DPT, Dsc Candidate. Also see, Premature Infant Follow-Up

Cranial deformation takes several forms.

Deformational Plagiocephaly

Deformational Brachycephaly

Deformational Scaphocephaly

Cephalic Index = BPD/OFD x 100

• Normocephalic or plagiocephaly: 76-90%
• Brachycephaly: >90%
• Dolichocephaly: <76%

Plagiocephaly Index (aka Oblique Diameter Difference) = [X – Y] (in mm)

• Normal: 0-4 mm
• Mild: 5-9 mm
• Moderate: 10-15 mm
• Severe: >15 mm

Treatment for positional deformation is repositioning and helmets. Evidence does not support the use of helmets in moderate-severely affected infants ages 5-6 months. A 2016 randomized controlled trial observed equal improvements in head shape in follow-up of infants who were helmeted vs. natural course; however, the study excluded premature infants <35 weeks and those with torticollis or other deformities. [van: 2014] Helmets may not be covered by insurance; coverage improves if there is also torticollis. Based on the timing of fontanelle closures, helmeting is most likely to be effective if initiated by 4 months of age, but it may not improve outcomes.

Initial treatment considerations include: [Siddiqi: 2020]

• Mechanical adjustments and exercises: These can be done at home. They include positioning the infant’s rounded side of the head against the mattress and changing the crib’s position so the infant would need to look away from the flattened side to see people enter the room. [Laughlin: 2011] [Morris: 2016] Some specialists advise placing a wedge or rolled up blanket under the torso on 1 side to appropriately position the child. Repositioning only works prior to the infant acquiring independent head control, which typically occurs by 4 months of age, corrected. Within 2-3 months, most infants will show improvement. [Task: 2000] This brief video demonstrates holding positions for parents to help stretch the baby’s neck muscles: Torticollis Holding Positions -COA PTOT.
• Physical therapy addresses congenital muscular torticollis (CMT) and positional preferences. A physical therapist can teach parents to address congenital muscular torticollis (CMT) and positional preferences with 3 repetitions of stretches performed several times daily, such as at each diaper change. [Laughlin: 2011] The stretches usually involve placing one hand on the child’s upper chest while the other gently moves the chin until it touches the shoulder. This is held for 10 seconds and then repeated for the other side. [Laughlin: 2011] This short video demonstrates exercises that parents can do at home to augment physical therapy for torticollis: How to Treat Torticollis - DadLabs Video.

Consider referral to a pediatric neurosurgeon or plastic surgeon or to a craniofacial specialist if improvement does not improve by 4 months of age. Treatments that might then be considered are: [Laughlin: 2011]

• Sleep orthotic or cradle devices position the infant’s occiput on a concave rather than a flat surface. This redistributes the surface pressure on the occiput but maintains the infant in the supine position. This approach only works prior to 3-4 months of age corrected, when infants develop sufficient head control to defeat its purpose.

• 

  Helmet therapy is an orthotic that is typically used for moderate to severe deformational flattening. [Rogers: 2011] [Rogers: 2011] Several principles are important:
  • Helmets would only have the potential to be effective when there is remaining skull growth.
  • Younger children correct quicker than older children, consistent with the rate of growth of the cranium.
  • Helmets do not apply pressure to the cranium but rather have foam selectively cut away from the area in which growth is desired. They do not mold or squeeze the cranium.
  • A skilled orthotist is needed to monitor the growth of the infant’s head and the fit of the helmet.

Prevention includes:

• Preventive counseling by 4 weeks of age: Provide information about tummy time while the infant is awake and observed (at least 30-60 minutes) and alternating head position at night during sleep. Encourage full, symmetric, unrestricted movements while awake. [Morris: 2016] Too much time in safety seats or swings should be discouraged. [Rogers: 2011]

Head shape is dependent on which sutures are fused.

Sagittal synostosis is the most common type of craniosynostosis, occurring in 2-3.2 per 10,000 live births and occurs more commonly in males. [Dias: 2020] Early closure of the suture running along the top of the head results in an elongated head shape (scaphocephaly) and biparietal narrowing, which can appear bullet-shaped posteriorly and downward sloping. Frontal or occipital bossing may occur, and a sagittal ridge may be palpated. A saddle deformity may be present at the vertex when viewed from the side.

The primary care clinician should differentiate sagittal synostosis from dolicocephaly (see Deformational Scaphocephaly, above) and from bathrocephaly (associated with a persistent mendosal suture (a suture that runs transversely between the lambdoid sutures that usually closes in utero), presenting with a prominent occiput with sharp angulation toward the neck but without frontal bossing, biparietal narrowing, or a sagittal ridge). Bathrocephaly does not require intervention.

Metopic synostosis with trigonocephaly is the second most common type of craniosynostosis, occurring in 0.9-2.3 per 10,000 live births, and affects more males than females. [Dias: 2020] Metopic synostosis develops due to early fusion of the metopic suture, which runs from the top of the nose mid-forehead to the sagittal suture, leading to a trigonocephalic or triangular shape with a mid-forehead prominence. Hypotelorism may be present. Less severe “mild trigonocephaly” with mildly wider back compared to front of the head may not require surgical intervention. A ridge over the metopic suture without trigonocephaly does not require imaging or surgical intervention.

Unioronal synostosis is when one of the coronal sutures running from the ear to the sagittal bone closes early, and anterior plagiocephaly develops on the side of the early closure. When coronal synostosis occurs, the contralateral frontal bone protrudes, orbits appear asymmetric, and the eye on the affected side appears more open (“Harlequin eye”). The bony part of the nose may be pulled toward the fused suture, and the nasal tip may deviate away from it.

KateVUk/Wikimedia (CC BY-SA 4.0)

Bicoronal synostosis (aka anterior brachycephaly) results in turribrachycephaly with a broad, tall appearance to the head, a flattened forehead, and bilaterally palpable coronal sutures. This can lead to exophthalmos and shallow eye orbits and a shortened nasal bone, and vision problems can occur. Bicoronal synostosis is more common in syndromic conditions that present with other atypical physical findings likely to be present, e.g., Crouzon, Apert, and Pfeiffer syndromes.

Lambdoid synostosis, the rarest type of synostosis, occurs in the lambdoid sutures at the back of the head. Early closure of one of these results in flattening on the back on the ipsilateral side, and the ear on that side may be pulled back or down. A mastoid bony bulge may be present on the affected side. The forehead will likely appear normal. It may appear trapezoidal when viewed from the back.

Complex synostosis involves multiple sutures and is quite rare and more likely associated with a syndrome.

While many cases are obvious at birth or within the first few weeks of life, more subtle cases may be difficult to identify. Declining occipital-frontal circumference (OFC) percentiles over time may provide a clue, as well as sleep apnea, hydrocephalus, speech or developmental delays, headaches, vomiting, and papilledema may be present if there is increased intracranial pressure (ICP). Use OFC charts (Head Circumference-for-Age Percentiles: Boys, Birth to 36 Months (CDC) ( 48 KB), Head Circumference-for-Age Percentiles: Girls, Birth to 36 Months (CDC) ( 45 KB)) or online OFC calculator (Infant Growth Chart Calculator: CDC 0-3 Years-Head Circumference For Age Percentile) for ages 0-3 to evaluate the growth of the infant’s head diameter over time. See Resources, below, for international OFC charts ages 0-5.

Imaging

Once swelling from birth has subsided in the first week or 2 of life, most cases of synostosis are readily identifiable. Early referral to pediatric plastic surgery or pediatric neurosurgery within the first month of life is advised. In some centers, a synostosis clinic may be available. Pediatric neurosurgery and pediatric plastic surgery often collaborate on care for these infants. Contacting the specialists with photos or via video may be useful as well. [Siddiqi: 2020]

When surgery is indicated, operating as early as 2-3 months of age (endoscopic-assisted strip craniectomy) may be recommended; however, the actual timing of surgery will vary depending on which suture is affected, the age at presentation, and the recommended treatment plan. [Naran: 2017] Open cranial vault surgery by 9-12 months is optimal due to the relative plasticity of the cranial vault that hardens significantly by 15 months of age. The expert recommendation for early surgical intervention is based on limited evidence; later surgical intervention has not been shown to improve outcomes, and complications are lowest in the earlier surgery groups. Earlier surgical interventions are associated with better neurodevelopmental outcomes, shorter operative times, shorter hospitalizations, reduced blood loss, and reduced swelling. [Mandela: 2019] [Bellew: 2019]

Treatment promotes a more typical head shape to protect the development of the orbits, provide adequate space for brain growth, and manage intracranial pressure. [Morris: 2016] Multiple studies have investigated the impact of abnormal head shape on children’s emotional well-being; however, there is a lack of high-quality evidence regarding this outcome. [Chummun: 2016] Elevated ICP is present in about 14-24% of children with isolated synostosis and can correlate with lower developmental outcomes; if multiple sutures are present, the risk increases. [Naran: 2017] However, evidence is unclear whether neurodevelopmental and cognitive outcomes reliably improve with earlier treatment of craniosynostosis. [Dias: 2020]

With the endoscopic-assisted strip craniectomy approach, serial helmeting is performed postoperatively for 6-12 months. Continue to monitor children postoperatively for symptoms and signs of increased ICP, developmental or behavioral concerns. Provide routine monitoring for problems with dentition, hearing, or vision and refer as indicated. Follow up within a multidisciplinary craniosynostosis program is advised, when available. [Siddiqi: 2020]

If available, refer to a Craniosynostosis Program for multidisciplinary evaluation, treatment, and follow-up program. If none is available then first refer to Pediatric Plastic Surgery (see NW providers [3]) for abnormal head shape evaluation and Physical Therapy (see NW providers [0]) for management of torticollis with positional plagiocephaly.

These specialists also often work together to manage head shape problems in babies:

Orthotist: A person skilled in providing supportive equipment for a desired functional outcome. In the case of cranial deformation abnormalities, this individual makes the helmet and closely monitors its function throughout its use on the infant’s head to ensure the best growth and prevent skin sores and discomfort for the infant.

Pediatric Neurosurgery: Provide evaluations, recommendations, and management for nervous system problems and severe or persistent cranial deformations. Pediatric Neurosurgery (see NW providers [1]).

Early Intervention: Referral to early intervention can be helpful as up to half of infants with craniosynostosis will have developmental and/or speech delays. Risk factors include prematurity and low birth weight. Early Intervention for Children with Disabilities/Delays (see NW providers [3]).

Pediatric ENT: Refer if a submucous cleft is suspected; this is a fairly common comorbidity in non-syndromic synostosis. Pediatric Otolaryngology (ENT) (see NW providers [1]).

Pediatric Dentistry: Refer to manage specialized dental issues. Pediatric Dentistry (see NW providers [2]).