Spondylo-Epiphyseal Dysplasia

Sphondylos is a Greek term meaning vertebra. Epiphysis refers to the ends of long bones that are adjacent to the joints. Therefore, spondylo-epiphyseal dysplasias are disorders that involve both the spine and the ends of long bones. There are many types of spondyloepiphyseal dysplasias (SED), including SED congenital and SED tarda. We will limit our discussion here to SED-congenita (SEDc). As of 1994, approximately 175 well-documented cases of SEDc had
been reported.

 
How Spondylo-Epiphyseal Dysplasia Is Inherited

SED-congenita typically has an autosomal dominant pattern of inheritance; however, distinct cases of autosomal recessive inheritance have also been reported (3). Most cases of this dysplasia are due to spontaneous mutations (3). Gonadal mosaicism helps to explain why affected children are oftentimes born to unaffected parents.

 
Causes of Spondylo-Epiphyseal Dysplasia

SED-congenita is caused by a mutation of the gene coding for Collagen Type II (COL2A1) found on Chromosome 12 (1). Type II collagen is a structural protein present in the intervertebral discs, cartilage, and the eyeball.

 
Physical Characteristics
Face & Skull
  • Characteristic facial expression of sadness
  • Long face, narrow at the level of the eyes
  • Mild frontal bossing
  • Protruding, wide-set eyes
  • Down-turned eyebrows
  • Small mouth with cleft palate
  • Head appears to rest on chest
Trunk, Chest, & Spine:
  • Short neck
  • Barrel chest with pectus carinatum
  • Deep Harrison’s grooves
  • Disproportionately small pelvis, set back behind the frontal plane of the shoulders. Patients tend to walk with their head hyperextended and behind their shoulders.
  • Short spine
  • Marked lumbar lordosis
  • Moderate kyphoscoliosis oftentimes occur in late childhood or
    early adulthood.
  • Platyspondyly
Arms & Legs:
What are the X-ray characteristics?

The major radiographic features of infancy include a delayed ossification of the skeleton and an absence of ossification centers of pubic bones and knee epiphyses. Ossification of the vertebral bodies of upper cervical spine is absent, and the vertebral bodies of the thoracic and lumbar regions are small and dorsally wedged. The ossification of the sacrum is delayed. The major radiographic features of childhood include flattened and immature vertebral bodies with anterior ossification defects. Hypoplasia of odontoid process of C-2 is characteristic. Ossification of the pelvis is delayed. Femoral head and neck may be absent or incompletely ossified. Coxa vara is common. Epiphyseal and metaphyseal abnormalities of long tubular bones are typical. There is also a delayed appearance of carpal and tarsalossification centers. The major radiographic features of adulthood include a short spine with moderate kyphoscoliosis and marked lumbar lordosis. Vertebral bodies are flat and irregular. The odontoid process is hypoplastic, with lack of fusion with C-2 body. Femoral trochanters are high-riding. Femoral heads are deformed. Coxa vara is common. The long tubular bones are abnormally short, with flat and deformed epiphyses.

 
Making the Diagnosis

The diagnosis of SED is made on the basis of clinical features and relevant X-rays. Radiographic features that are particularly characteristic are the biconvex appearance of the ossification center of the vertebral bodies on lateral radiographs of the spine and the several-year delay in the ossification of the iliopubic ramus and epiphyses of the long bones, particularly the femoral heads. Moreover, SED-congenita may be suspected in the prenatal period on the basis of ultrasonography. The gene is known, but testing may be difficult considering its size. Certain mutations of the gene have been associated with different forms of SED.

 
Musculoskeletal Problems
Neck

Individuals with SED have odontoid hypoplasia. If the odontoid is unstable or forms abnormally, it presses on the spinal cord to cause atlantoaxial instability, which is common to many skeletal dysplasias. It is diagnosed on the basis of neck X-rays and MRI scans. The instability causes cervical myelopathy; it manifests even earlier than in patients with Morquio Syndrome. Symptoms, usually of the respiratory type, can be noted in newborns or young infants. Patients will begin to have great difficulty standing independently. Chronic motor weakness will begin to occur in the upper and lower limbs especially, followed by episodes of quadriplegia. Any inability to independently stand and remained balance does suggest myelopathy. Typically, cord compression is treated by surgical fusion of the vertebrae in the upper part of the neck.

Spine

Kyphoscoliosis in the thoracolumbar spine is a common feature in SED. It is present is over 50% of patients. Early diagnosis is by means of regular scheduled physical examinations and X-rays. For small curvatures bracing may be attempted, but this is not always successful. If serial x-rays demonstrate a progressive curve, surgical fusion of the spine may be necessary. In one study, the use of a brace was found to be effective for kyphosis when the brace was worn until maturity. Exaggerated lumbosacral lordosis affects nearly every SED-congenita patient. It causes an imbalance of the spine in the sagittal plane. The lordosis is most likely caused by changes in the structure of the vertebral bodies: the pedicles appear abnormally long and the vertical height of the posterior arches appears considerably low. Bracing, around the age of 4 or 5, is a successful attempt to correct the lordosis. However, small children typically do not tolerate the cumbersome brace very well, thereby its practicality is somewhat questionable.

Lower Limbs

Coxa vara is characteristic. The hip is a ball-and-socket joint formed between the pelvis (acetabulum) and the upper part of the femur (head). The head of the femur is connected to the shaft by the neck. Normally the neck makes an angle of 130° with the shaft. In SED, due to abnormal cartilage formation, the neck is unable to withstand the mechanical forces applied to it and the ball gradually bends downwards. Any change in the alignment of the femoral neck weakens the muscles around the hip joint (principally the abductors that stabilize the pelvis during walking) and causes hip joint contractures. Surgery to realign the femoral neck is recommended if symptomatic or if the neck-shaft angle is less than 100°. Genu valgus is more common than genu varus.

Feet

Though the medical literature indicates an association between SED and clubfeet, this is not our experience. We find flatfeet (planovalgus) to be much more common in children with SED.

Spine

In SED, the part of the bone adjacent to joints is affected. Joint cartilage is also predominantly composed of Type II collagen. Premature osteoarthritis is typical. Joint replacement surgery (hips and knees) may be necessary in early adulthood, but this is variable. The presence of associated joint contractures and bony deformities in SED makes such surgery a technically challenging exercise.

 
Problems Elsewhere in Body
Eye

Type II collagen is present in the eye. SED is therefore associated with myopia (short-sightedness) and retinal detachment. Regular review by an ophthalmologist to exclude retinal tears is recommended.

Respiratory Problems

Abnormal chest development in some forms of SED may cause respiratory insufficiency. Sleep apnea and breathing problems can occur due to compression of the spinal cord in the neck.

Ear

Moderate hearing loss may occur, especially for high-pitched sounds. Children with SED are at risk for developing recurrent ear infections due to reduction in the size of the tubes connecting the middle ear cavity to the upper throat (Eustachian tube).

 
What to Watch For

In SED, regular assessment by a pediatric orthopedic surgeon, conversant in the management of skeletal dysplasias, is essential. Clinical and radiographic assessment should be conducted every 6 months, more frequently if closer supervision of an impending problem is necessary.

Additionally, any change in gait pattern should be taken seriously. This may be associated with tiredness, decrease in walking distance, reduced endurance, or muscle pain. Any alterations in sensation (tingling or numbness in arms and legs) or loss of bowel/ bladder control are indicative of spinal cord irritation or compression.

Changes in trunk symmetry, shoulder height differences, prominence of one hip, or rib prominence on bending forwards may indicate a changing curvature in the spine.

Knock-knees may also progress over time. The best method of accurately assessing this is to obtain X-rays.

Flatfeet may cause pain, footwear problems, or callosities in the skin.

If central apnea is suspected, a respiratory physician may be sought out to conduct sleep studies. Central apnea results from spinal cord compression from cervical spine instability.

Generally, all skeletal dysplasias warrant multidisciplinary attention. Regular assessment by an orthopedist, geneticist, pediatrician,
dentist, neurologist, and physical therapist will provide the most comprehensive treatment.

 
References
  1. Jones, Kenneth L. Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier Saunders. 2006.
  2. Kopits, Steven E. Orthropedic Complications of Dwarfism. Clinical Orthopedics and Related Research. 144: 153-179. 1976.
  3. Scott, Charles I. Dwarfism. Clinical Symposium, 1988; 40(1):17-18.
  4. Spranger, Jurgen W. Brill, Paula W. Poznanski, Andrew. Bone Dysplasias: An Atlas of Genetic Disorder of Skeletal Development. Oxford: Oxford University Press. 2002.
  5. Taybi, Hooshang. Lachman, Ralph S. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. St. Louis, MO: Mosby-Year Book, Inc. 1996.

Trusted Insights from Nemours' KidsHealth

Relaxation Techniques for Children With Serious Illness

Managing Stress

Nothing about serious illness is easy, but one of the hardest things for parents may be watching their child struggle with pain, stress, and anxiety.

Despite what we may sometimes tell ourselves, stress is not just "in our heads." The stress response — also called the flight-or-fight response — causes a rush of adrenaline and other hormones that trigger physical changes in the body: your heart races, your blood pressure rises, you breathe faster, your digestion slows, and your pupils dilate. Chronic stress takes a toll on the body as well as the mind.

The good news is that using a variety of mind-body relaxation techniques can help short-circuit the flight-or-fight response. Relaxation techniques not only can lessen a child's physical symptoms, they can also help him or her (and you!) regain a sense of control and confidence over a situation, helping everyone find moments of peace amid the chaos and isolation of illness and medical treatment.

Techniques That Can Help

These techniques are designed for parents and kids to practice together. Most can be done in a few minutes wherever you are, whether that's a quiet place or a crowded hospital, without any special tools.

However, it's important to note that these techniques should be used as a complement to conventional medical treatment for anxiety and pain, and not as a replacement — doing so could do a child more harm than good.

If your child is suffering from anxiety or pain, ask your doctor what can be done to help. And always check with your health care team to make sure that your child's symptoms are related to stress and not a different medical problem.

Focused Breathing

Pain and stress can leave a child breathing faster and shallower, or even holding his or her breath — all of which can actually keep the stress response going and heighten the intensity of pain. Paying attention to breathing can help calm the mind.

Try this exercise with your child:

  • Step 1. Sit or lie comfortably and put one hand on your stomach, the other on your chest.
  • Step 2. Close your eyes and try to relax all of your muscles, one by one, from the tips of your toes to the top of your head. Don't forget to relax the muscles in your face, neck, and jaw; you may be storing a lot of tension there.
  • Step 3. Breathe deeply and regularly for several minutes— and try to make your stomach (abdomen) rise and fall, not only your chest. This will help you deepen your breath.
  • Step 4. Pay attention to each breath; try to turn all your thoughts to each inhale … exhale. As you breathe out, imagine the tension leaving your body with the breath.

At first, it may be difficult for you and your child to focus on breathing. Distracting thoughts are normal — but rather than following a thought and letting it consume you, try to let it drift out of your mind, like a balloon.

Relaxation Response Method

This technique asks a person to focus on breathing and quiet the mind to create a sense of calmness and well-being. And by repeating a word, phrase, or prayer during the exercise, the mind is able to stay focused more easily. When practicing this, it's normal for thoughts to pop into the mind. Tell your child to disregard them and just focus on the word or phrase he or she is repeating.

Resembling an Eastern form of meditation, this technique — called the relaxation response — was popularized and put into Western practice in the 1970s by Herbert Benson, MD. To elicit the relaxation response, follow Steps 1-4 above, and then:

  • Step 5. Pick a focus word, phrase, sound, or prayer such as "om," "one," or "peace."
  • Step 6. As you breathe, say the focus word silently to yourself as you exhale.
  • Step 7. Continue for 5 or 10 minutes, ideally building up to 10 to 20 minutes for each session.
  • Step 8. When you're finished, do not stand up immediately. Continue sitting quietly for a bit, letting other thoughts back into your mind. Open your eyes, but stay sitting for another minute before getting up.

When practicing, go at your own pace. Don't feel like you have to achieve a deep level of relaxation right away. Often, feelings of calmness and well-being are felt later on or at times of crisis.

To achieve ongoing results, try to practice the technique with your child once or twice daily, but not within 2 hours after eating, as digestion can interfere with the relaxation response. Some people find that the best time to meditate is first thing in the morning, before breakfast.

Guided Imagery

A growing body of medical research suggests that imagery also can help lessen pain and anxiety, and promote positive feelings. In fact, studies have found that people who practice guided imagery during chemotherapy feel more relaxed and positive about their chemo experience than those who don't use the technique.

Guided imagery (also called "visualization") often works best when a person starts with a few minutes of focused breathing. Here's how it works: With eyes closed, imagine a safe place or a location you once visited that brought a feeling of contentment and joy. Hold on to the image of that place for a while, trying to picture all the sights and sounds:

  • What does the ground beneath you feel like? Is it weather warm or a chilly? Is there a breeze?
  • Are there any animal noises in the distance, or nature sounds (like running water) that you could hear?

Getting as descriptive as possible about this safe place will help you and your child get "into" the moment and feel relaxed.

Some children find this exercise more helpful when they are "guided" by a parent, another live instructor, or with a guided imagery CD or DVD.

As with meditation, distracting thoughts will float into the mind as you practice guided imagery. Acknowledge these thoughts, and then let them drift away while you move your attention back to the images in your mind and sounds you hear.

Music Therapy

Just as pleasant images can calm the mind and soothe the body, so can music. Kids who undergo music therapy — the research-based use of music to lift moods and promote mental and physical well-being — have been found to have lowered heart rates and blood pressure, and improved anxiety.

Many hospitals provide a licensed, trained music therapist who can work individually with kids to develop a customized treatment plan that engages them in:

  • active play that includes listening to music
  • dancing or moving the body to music
  • playing instruments or improvising on them
  • singing along

To participate in music therapy, your child doesn't need to read music or have any special musical talents. And the best part is that you can practice music therapy at home. By choosing music that both you and your child enjoy — and setting aside time to listen, dance, sing, or experiment with an instrument together — you, too, can teach your child the joys of music.

Energy Therapy

Energy therapy is based on the theory of bioelectromagnetics, the belief that the electrical currents in all living organisms produce magnetic energy fields that extend beyond the body. Proponents of this therapy believe that gentle, light touch or above-the-body hand movements can redirect energy to places where it's needed in an effort to bring energy into "balance" or harmony.

While the principles of energy therapy have not been scientifically proven, practitioners say it promotes healing and helps kids feel more relaxed, less anxious, and less bothered by pain.

Many different types of energy therapy are practiced all over the world, including therapeutic touch, healing touch, Reiki and Johrei (from Japan), and Qi gong (from China).

In the United States, some hospitals offer therapeutic or healing touch as a complement to standard treatments for anxiety, pain, or other medical problems.

And some nurses, doctors, or other health care providers are certified in healing touch techniques. They may be able to offer this service to your child, or teach you how to practice healing touch at home.

Massage Therapy

If you like to take a more hands-on approach to soothing and comforting your child, you might prefer massage. The benefits of massage are well known, offering muscle relaxation and increased blood flow and oxygen to body parts to help alleviate stress and ease pain.

But some types of massage are not recommended for certain types of conditions, so check with your doctor first before massaging your child or taking your child to a massage therapist.

The most common forms of massage used in complementary medicine include:

  • Swedish massage. Therapists use their hands to move muscles and joints with long, gliding strokes, tapping movements, friction (made by moving hands quickly) and kneading. Massage oils may be used, so be sure to tell the therapist about any allergies or sensitivities to ingredients that your child may have.
  • Deep-tissue massage. Many of the same techniques are used as in Swedish massage, only therapists apply more pressure to specific areas, concentrating on the deeper layers of muscles and connective tissue.
  • Trigger-point massage. Like deep-tissue massage, this technique massages deeper layers of tissue, focusing on what therapists call trigger points ("knots") within the connective tissue or muscles that are usually painful when pressed.

Many hospitals have massage therapists on hand to offer massages to both patients and their family members, so find out if massage therapy is offered at your hospital.

Learn More

These are just a few of the many methods designed to help patients and families cope with pain and anxiety. Many people find that yoga, stretching, or light, gentle exercise also helps to quiet the mind and sooth the body.

To learn more about relaxation techniques, talk to your child's health care team.

Reviewed by: Larissa Hirsch, MD, and Walle Adams-Gerdts, RN, BA, HTCP/I
Date reviewed: April 2011