What is Congenital Torticollis?
Torticollis is a medical term that comes from Latin, with ‘tortum’ meaning twisted and ‘collum’ translating to neck. Thus, torticollis refers to a condition where the sternocleidomastoid muscle – a muscle in your neck – tightens or hardens, making the head tilt to one side and the face turn in the opposite direction. This condition often results from other health problems and can occur at any age, including at birth.
Congenital torticollis (present from birth) usually appears shortly after a baby is born, though the timing can change depending on how severe the condition is, with less severe cases showing up earlier. Doctors usually diagnose it by physical check-up. Globally, between 0.3% to 1.9% of babies are born with this condition, which roughly translates to about 1 in 250 newborns. This makes it the third most common birth defect affecting bones and muscles. It’s worth noting that babies with congenital torticollis also have congenital hip dysplasia about 20% of the time. The condition is somewhat more common in boys than in girls, with a ratio of 3 to 2.
While congenital torticollis is seen at birth or within the first few weeks of life, there is also acquired torticollis that can happen at any age. This later type is usually a result of anomalies present from birth, injuries, infections, inflammation in nearby areas, tumors, or conditions affecting the eyes and nerves.
Regardless of whether torticollis is congenital or acquired, physical therapy is the primary treatment method. If physical therapy doesn’t work or if there are cosmetic concerns, surgery might be necessary.
What Causes Congenital Torticollis?
Congenital torticollis – a condition where a baby’s neck muscle is shortened causing the head to twist to one side – doesn’t have a confirmed cause yet. Some suggest it might be related to issues like limited blood supply, childbirth injuries, or the baby’s position in the womb, but none of these theories are proven.
The condition is mainly thought to be due to changes in the baby’s position in the womb, which is often seen when there’s limited space in the womb like in first pregnancies, less amniotic fluid, or a condition where the uterus is compressed. Other causes may include issues with the baby’s position, spine abnormalities, fusion of the neck and skull on one side, a syndrome called Klippel-Feil, missing one neck muscle, and a neck webbing condition.
In children, the most common form of torticollis is when abnormalities are seen in the sternocleidomastoid muscle of the neck.
The neck muscular system is divided into two levels: long neck muscles on the surface level and paravertebral muscles on the deeper level. Among these, the sternocleidomastoid muscle, situated on the front side of the neck, is the most noticeable. This muscle, visible and tangible, connects to several parts such as the sternum (breastbone), clavicle (collarbone), and occipital region (back of the head), and mastoid processes, with fibres running upwards and outwards. When this muscle functions, the head and neck tilt towards the active muscle’s side and the head rotates to the opposite direction.
Congenital torticollis is usually identified in newborns or infants. In a study of 155 infants under 12 months with this condition, they found that about 30% had a digestive condition called gastroesophageal reflux disease (GERD), which is where stomach acid frequently flows back into the tube connecting the mouth and stomach. However, there were no differences in characteristics between those with torticollis with or without GERD.
Risk Factors and Frequency for Congenital Torticollis
Congenital torticollis, an uncommon birth condition affecting the muscles of the neck, affects between 0.3% and 1.9% of newborns globally. This makes it the third most common congenital orthopedic anomaly. It’s more typical in males and first pregnancies. The occurrence is higher in traumatic births (2%) than non-traumatic deliveries (0.3%). About 53% of cases occur in children born to first-time mothers, especially those with a traumatic birth history. This condition is generally noticed when babies are around 2 to 3 weeks old and can last up to a year. While it usually affects just one side of the neck, it can, in rare situations, influence both sides. About half of the time, there is a visible swelling known as a sternomastoid tumor.
- Postural (20%): the baby tends to favor a certain position, but there is no muscle stiffness or movement restriction.
- Muscular (30%): marked by tightness in a neck muscle (sternocleidomastoid) and limited neck movement.
- Sternocleidomastoid mass (50%): noticed by a thickened sternocleidomastoid muscle and restricted neck movement.
Congenital muscular torticollis is associated with developmental dysplasia of the hip. As a result, babies diagnosed with torticollis should be checked for hip dysplasia as well to allow for early diagnosis and treatment. It’s worth noting that torticollis is not considered a risk factor when treatment for hip dysplasia is not successful.
Signs and Symptoms of Congenital Torticollis
Congenital torticollis is a condition in newborns where the infant’s head is noticeably tilted, often causing concern for parents. When it’s time for a health checkup, the doctor will take a comprehensive look at your child’s medical history considering if there were any complications during birth, and conduct a physical check especially of the sternocleidomastoid muscle, which is located on the neck. Signs of this condition to keep in mind include:
- A hardening or minimization of the sternocleidomastoid muscle.
- A noticeable tilt of the head to one side and significant limitation in neck movement due to a stiff neck caused by muscle restriction.
- A painless bump on the neck, obvious in babies aged 2-3 weeks. The bump is hard but mobile under the skin and is soft. If the bump is too small or overlooked in the baby phase, the baby’s head is usually bent and tilted to the side where the bump is. Half of these cases are confirmed within 2 months, and the lump may increase until it’s about the size of an almond before it starts to shrink and may completely disappear by the time the baby is eight months old.
- Changes in head shape (due to plagiocephaly presence, a condition where the head is flattened), such as a flat spot on the back of the head and the ear on the unaffected side moving forward with flattening of the forehead on the affected side.
- Compensatory body postures such as crooked neck, back, limbs, elevated shoulders, or trunk leaning to the side with the affected muscle.
Because of the muscle shortening on one side, kids with congenital torticollis often prefer laying face down to sleep with the affected side on the bed. This can cause unbalanced pressure on the skull and the face bones and can lead to reshaping of the cheekbones, creating facial asymmetry or plagiocephaly. This can make breastfeeding difficult and affect the baby’s development of skills like sitting up and crawling, as they might compensate from other body parts, possibly causing further complications with their posture, such as scoliosis.
In older kids, the sternocleidomastoid muscle often seems denser and more robust along its length, limiting turning and tilting of the neck towards the unaffected side. This change might cause the head to flatten, a condition known as positional plagiocephaly. This can be associated with other physical abnormalities such as metatarsus adductus (a common foot deformity noted at birth that causes the front half of the foot, or forefoot, to turn inward), calcaneovalgus feet, developmental hip dysplasia, and brachial plexus palsy.
Testing for Congenital Torticollis
The first step to diagnose congenital torticollis, a condition in which the head tilts to one side, is usually a physical examination. This can involve checking the movement of the head and neck, generally done by a physical therapist. They might assess the flexibility of the neck and overall body function. They will also check eye movement to see if there is anything unusual, as problems with eye muscles could lead to torticollis as a way for the baby to try and see better.
If the physical checks do not reveal any muscle tightness or issues with joint movement, it might be useful to have an eye specialist look at the case. Working with a group of specialists can ensure the baby gets the best care.
About 15% of babies with congenital torticollis also have hip dysplasias, a condition where the hip joint has not formed properly. Doctors suggest a hip examination and ultrasound scan when the baby is 4 to 6 weeks old or a plain X-ray of the hips at 4 to 6 months. Certain factors can increase the likelihood of hip dysplasia such as being a first born girl, conditions like torticollis, birth position, cesarean delivery, and a large baby. Hip dysplasia is often present in one hip only.
It’s important to detect hip dysplasia early as it doesn’t usually cause symptoms in newborns and early treatment can lead to a better outcome. Late diagnosis can cause problems like lameness, chronic pain, arthritis and even mental impairment further down the line. Therefore, doctors need to look out for signs of hip dysplasia and refer any suspicious cases to a specialist.
Separate signs that help identify hip dysplasia include the Ortolani/Barlow sign and limited hip abduction as major signs, and the Galeazzi sign and asymmetry of the folds (inguinal and thighs) as minor signs.
Diagnosing torticollis helps to plan treatment. Doctors will often make a diagnosis based on physical checks and in most cases, further testing is not necessary. Parents often notice the condition by 2 months of age, and it can sometimes be linked to a flattened head (plagiocephaly). In some cases, ultrasound scans or magnetic resonance imaging (MRI) can help by identifying nonmuscle causes of torticollis. They can also help monitor neck masses that might be causing the issue, like a pseudotumor, over the long-term and check progress after treatment.
Any neck mass on the affected side, along the sternocleidomastoid muscle in the neck, usually disappears between 4 and 8 months of age. In rare cases where doctors can’t work out the cause, a tiny bit of affected tissue might be extracted for examination in a procedure known as a fine-needle aspiration cytology (FNAC), or in some cases a biopsy. However, these procedures usually provide limited information as they tend to be performed later in the course of the disease.
Treatment Options for Congenital Torticollis
Congenital torticollis, a condition where the head turns to one side due to muscle tightness, can be treated in several ways. There’s no one-size-fits-all approach, so professionals from areas like physiotherapy and osteopathy may suggest different strategies for babies with this condition.
With appropriate treatment, up to 95% of kids show improvement by their first birthday. Improvements are most likely when starting treatment early, especially within the first six months of life. A noticeable mass in the muscle on the side of the neck, known as the sternocleidomastoid, may signal the need for intervention by the second month. The goal is to help the child achieve normal and age-appropriate head and neck movement to encourage symmetrical face, head, and neck development.
Treatment begins with stretching exercises and regular check-ups. Parents are guided on how to position their baby in ways that help stretch the tight muscle, which can be done during feeding or when the baby is awake and lying on their tummy. Physical exercises that flex, extend, and rotate the neck are also recommended at least three times a week. When the sternocleidomastoid muscle feels hard or fibrous, these stretching techniques are often most helpful.
Several studies have shown that physical therapy can be useful for congenital torticollis, but existing data often does not explain how often and what types of exercises should be done. In general, treatment often involves a gradual reduction in therapy sessions, starting from twice a week to eventually once a week. The effectiveness of therapy improves with earlier initiation.
For children over four months, the Tubular Orthosis for Torticollis (TOT) collar can help support the neck and is meant to be worn during the day. If physical therapy doesn’t work, alternatives like using botulinum toxin injections into the affected muscle may be tried. Surgery might be considered in severe cases where other treatments have failed. However, physical therapy continues to play a crucial role at all treatment stages.
Surgery becomes an option when there’s no improvement after six months of stretching exercises, if there’s a significant restriction in neck movement, or if there’s a tight muscular band in the neck muscle. The specific surgery may involve various techniques to lengthen or cut the affected muscle. Surgery has provided positive outcomes in long-standing torticollis patients, improving head position and neck movement. However, it may not correct face asymmetry. On the positive side, studies have shown that surgery can significantly enhance the quality of life and clinical results in congenital torticollis cases.
What else can Congenital Torticollis be?
When a doctor suspects a child might have congenital torticollis (a condition that causes the head to tilt to one side), they often look at other possible causes for the symptoms. These could include:
- Problems with the spine, like hemivertebrae and Klippel-Feil Syndrome
- The lack of a neck muscle (sternocleidomastoid) on one side from birth
- Curved spine (congenital scoliosis)
- An eye condition that causes abnormal head posture (ocular torticollis)
- Sandifer syndrome, a rare condition related to acid reflux
- Arnold-Chiari Malformation, a problem with the brain and spinal cord
- Different neurological conditions
- Issues with vision
- Syringomyelia, a condition where a fluid-filled sac forms in the spinal cord
- The presence of a tumor in the neck or brain
All these conditions could cause symptoms similar to congenital torticollis, and the doctor needs to rule them out before confirming the diagnosis.
What to expect with Congenital Torticollis
Congenital torticollis, a condition where a baby’s head tilts to one side, usually improves on its own or with some gentle stretching. With the right attention, 90% to 95% of children get better before they reach one year old. In fact, 97% improve if treatment starts within the first six months. The asymmetry in the baby’s face also gets better, especially if treatment is started early.
If the condition is identified later or doesn’t improve with physical therapy, surgery might be needed. Usually, surgery for this condition yields positive results, improving the child’s neck movement and fixing the leaning issue.
Possible Complications When Diagnosed with Congenital Torticollis
If a child with torticollis (a condition where the head tilts to one side) doesn’t receive timely treatment, they may end up with permanent physical changes. These could include changes in appearance, cosmetic issues, or problems with physical abilities. A serious long-term issue could be facial imbalance that occurs when the sternocleidomastoid muscle (one of the key neck muscles) remains tight and doesn’t loosen. This is why we need to remedy torticollis as quickly as possible, to prevent facial imbalance and various long-term issues.
It’s common to find that babies with muscular torticollis also have positional plagiocephaly (a condition that causes a flat spot on the back or side of a baby’s head). This highlights the need to tell the difference between this harmless condition and another called craniosynostosis (a rare birth defect that causes one or more of the fibrous joints between the bones of a baby’s skull to close prematurely). A careful check of the sutures (the joints between the bones of the skull), along with imaging tests like x-rays or ultrasounds, can assist in making the correct diagnosis.
Treating plagiocephaly involves advising parents to frequently change their baby’s position to prevent their skull from reshaping. The baby may also need to be referred to a physical therapist to improve neck movement as part of the overall treatment plan.
Preventing Congenital Torticollis
Noticing and recognizing symptoms early on is crucial. If parents notice a bump in their child’s neck or something off about the shape of the neck, they should let their child’s doctor or physical therapist know right away. By spotting the problem early, it can usually be fixed completely with exercises that stretch the muscle. But if it’s noticed later, it might require surgery to correct and could result in an uneven face and skull.