“Pseudo” means “false.” Thereby, this disorder is one that resembles, but is clinically distinct from, achondroplasia.The incidence of pseudoachondroplasia is estimated at 1 in 30,000, however the birth prevalence is not yet known (2).
Pseudoachondroplasia results from a mutation in the gene coding for cartilage oligomeric matrix protein (COMP) (1). COMP is a normal constituent of the extra-cellular matrix in cartilage, ligaments, and tendons. Defective COMP results in the accumulation of proteoglycans within cartilage cells.
Both the epiphyses and metaphyses are affected in pseudoachondroplasia. Clinically, it is recognized as a form of short-limbed dwarfism, with body proportions similar to those of achondroplasia, yet with normal-sized heads and facial features.
The postnatal onset of short-limbed growth deficiency will not become apparent until between 18 and 24 months of age. Pseudoachondroplasia manifests itself over time. Ultimately, adult stature is between
82 and 130 cm.
Face and Skull
- normal head size and facial features
Trunk, Chest and Spine:
- disproportionately long trunk
- prominent abdomen
- exaggerated lumbar lordosis
- possible thoracolumbar kyphosis
- mild to moderate scoliosis
Arms and Legs:
What Are the X-Ray Characteristics?
The radiographic features of pseudoachondroplastic patients include short and broad long bones with flaring of the metaphyses. Epiphyseal ossification is delayed. The epiphyses appear irregular and fragmented. The hips and knees are primarily affected. Due to their dysplastic nature, the carpals ossify late.
In the pelvis, the acetabulum (hip socket) is shallow and accentuates hip dysplasia. The triradiate cartilage is also late to mature and ossify. Arthrograms are helpful in identifying joint surfaces and planning surgery for angular deformities. The capital femoral epiphyses are small and irregular in children; in adults, there is marked dysplasia of the femoral head. The femoral head is flattened and fragmented. This leads to hip joint incongruity and exacerbates the effects of hip subluxation.
X-rays of the spine show platyspondyly and flame-shaped anterior projections. The interpedicular distance does not progressively decrease in the lumbar spine. In the neck, lateral X-rays of the cervical spine may reveal odontoid hypoplasia. The vertebrae will at first seem deformed, but the irregularities generally disappear by adolescence. Flexion-extension radiographs should be obtained to rule out atlantoaxial instability. MRI scans of the cervical spine (static, flexion/extension views and CSF flow studies) are helpful in identifying any compression of the spinal cord.
The average length at birth is 49 cm, which is within the normal range. Pseudoachondroplasia is therefore not readily recognized at birth. But, lack of longitudinal growth manifests itself in the first 2 years of life (below 5th percentile on standard growth charts). By this point the abnormal gait is present and measurements suggest pseudoachondroplasia. Diagnosis is typically made between 1 and 4 years of age and is based on clinical examination and characteristic X-ray appearances. Prenatal testing is now available by direct DNA analysis. The test detects the abnormal COMP gene by mutation scanning. Prenatal diagnosis may be appropriate during pregnancy in women with pseudoachondroplasia. It must be stressed that the majority of cases are spontaneous mutations.
The cervical spine should be monitored for the presence of atlantoaxial instability. Lateral flexion-extension x-rays of the cervical spine is recommended, if a pre-existing abnormality such as hypoplastic odontoid is present. Posterior cervical decompression and fusion should be performed if the instability exceeds 8 mm or neurological symptoms (cervical myelopathy) occur. Scoliosis should be looked for and is managed similar to idiopathic curves. Lateral c-spine x-rays should be routinely obtained in all children with pseudoachondroplasia undergoing surgery for any reason.
Angular deformities around the knee are corrected using osteotomies. Careful pre-operative planning is essential to restore normal mechanical axes in sagittal and coronal planes (down the middle of the body). Since the epiphyses are distorted, intraoperative arthrography may be necessary to properly visualize the joint surfaces. The effect of ligamentous laxity on alignment should be ascertained as part of the pre-operative planning. Recurrence of deformity is common and several procedures may be necessary to achieve lower extremity skeletal alignment at maturity. Up to 50 percent of adults will require joint replacement surgery for early onset degenerative arthritis. Hip/ knee replacement surgery in patients with skeletal dysplasia is a technically demanding exercise due to abnormal skeletal size and shape. Subluxation of the hips is a combination of femoral deformity, failure of epiphyseal ossification, acetabular dysplasia (failure of hip socket development), and joint contractures (flexion and adduction). A combination of femoral and pelvic osteotomies may be necessary. Since the femoral head is flattened, a valgus proximal femoral osteotomy is preferred to a varus procedure. If the hip joint is not congruous, acetabular augmentation procedures (Chiari osteotomy or Shelf procedure) are used to salvage the hip.
Few problems, if any, occur and good general health can be expected.
Pseudoachondroplastic patients should look out for neurological symptoms such as weakness of the lower limbs, incontinence, pain in the legs, reduced endurance, and tingling/ numbness of the legs. These symptoms may indicate compression of the spinal cord in the neck.
Lower extremity pain of gradual onset or changes in walking (waddling/ limping) may also result from altered alignment of the legs. In later life, pain in the hips and knees is usually the result of degenerative arthritis.
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.
- Jones, Kenneth L. Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier Saunders. 2006.
- Posey, Karen L. Hayes, Elizabeth. Haynes, Richard. Hecht, Jacqueline T. 2004. Role of TSP-5/COMP in Pseudoachondroplasia. The International Journal of Biochemistry and Cell Biology. 36: 1005-1012.
- Scott, Charles I. Dwarfism. Clinical Symposium, 1988; 40(1);11-14.
- Spranger, Jurgen W. Brill, Paula W. Poznanski, Andrew. Bone Dysplasias: An Atlas of Genetic Disorder of Skeletal Development. Oxford: Oxford University Press. 2002.
From Nemours' KidsHealth
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There's been a lot of discussion over the years about the proper way to refer to someone with dwarfism. Many people who have the condition prefer the term "little person" or "person of short stature." For some, "dwarf" is acceptable. For most, "midget" definitely is not.
But here's an idea everyone can agree on: Why not simply call a person with dwarfism by his or her name?
Being of short stature is only one of the characteristics that make a little person who he or she is. If you're the parent or loved one of a little person, you know this to be true.
Here are some facts that other people may not realize about dwarfism and those who have it.
- is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA).
- can be caused by any one of more than 300 conditions, most of which are genetic. The most common type is called achondroplasia.
- can and most often does happen in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia are born to average-size parents.
- an intellectual disability. A person who has dwarfism is typically of normal intelligence.
- a disease that requires a "cure." Most people with one of these conditions live long, fulfilling lives.
- a reason to assume someone is incapable. Little people go to school, go to work, drive cars, marry, and raise children, just like their average-size peers.
What Causes Short Stature?
More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change (mutation) in the egg or sperm cells prior to conception. Others are caused by genetic changes inherited from one or both parents.
Depending on the type of condition causing the short stature, it is possible for two average-size parents to have a child with short stature, and is also possible for parents who are little people to have an average-size child.
What prompts a gene to mutate is not yet clearly understood. The change is seemingly random and unpreventable, and can happen in any pregnancy. If parents have some form of dwarfism themselves, the odds are likely that their children will also be little people. A genetic counselor can help determine the likelihood of passing on the condition in these cases.
Dwarfism has other causes, including metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can't absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate.
Types of Short Stature
Most types of dwarfism are known as skeletal dysplasia, which are conditions of abnormal bone growth. They're divided into two types: short-trunk and short-limb dwarfism. People with short-trunk dwarfism have a shortened trunk with more average-sized limbs, whereas those with short-limb dwarfism have an average-sized trunk but shortened arms and legs.
By far, the most common skeletal dysplasia is achondroplasia, a short-limb dwarfism that happens in about 1 of every 15,000 to 40,000 babies born of all races and ethnicities. It can be caused by a spontaneous mutation in a gene called FGFR3, or a child can inherit a change in this gene from a parent who also has achondroplasia.
People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. They may share other features as well, such as a larger head with a prominent forehead, a flattened bridge of the nose, shortened hands and fingers, and reduced muscle tone. The average adult height for someone with achondroplasia is a little over 4 feet.
Diastrophic dysplasia is a different form of short-limb dwarfism. It happens in about 1 in 100,000 births, and is also sometimes associated with cleft palate, clubfeet, and ears with a cauliflower-like appearance. People who have this diagnosis tend to have shortened forearms and calves (this is known as mesomelic shortening).
Spondyloepiphyseal dysplasias (SED) refers to a group of various short-trunk skeletal conditions. Along with achondroplasia and diastrophic dysplasia, it is one of the more common types of dwarfism. In one type of SED, the lack of growth in the trunk area may not become apparent until the child is school age; other forms are apparent at birth. Kids with this disorder also might have clubfeet, cleft palate, and vision and/or hearing issues.
In general, dwarfism caused by skeletal dysplasias results in what is known as disproportionate short stature — meaning the limbs and the trunk are not of the same proportion as those of typically-statured people.
Metabolic or hormonal disorders typically cause proportionate dwarfism, meaning a person's arms, legs, and trunk are all shortened but remain in proportion to overall body size.
Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it.
But most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the baby's appearance, growth pattern, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth.
Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to increase a child's growth, but skeletal dysplasias cannot be "cured."
People with skeletal dysplasias can, however, get medical care for some of the health complications associated with their short stature.
Some forms of dwarfism also involve issues in other body systems — such as vision or hearing — and require careful monitoring.
Possible Complications and Treatments
Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications.
Fortunately, many of these complications are treatable, so that people of short stature can lead healthy, active lives.
For example, a small percentage of babies with achondroplasia may have hydrocephalus (excess fluid around the brain). They may also have a greater risk of developing apnea (a temporary stop in breathing during sleep). This can be due to abnormally small bone anatomy or because of airway obstruction by the adenoids or the tonsils. Occasionally, a part of the brain or spinal cord is compressed. With close monitoring by doctors, however, these potentially serious problems can be detected early and surgically corrected.
As a child with dwarfism grows, other issues also may become apparent, including:
- development of some motor skills, such as sitting up and walking happening at older ages than an average-sized child
- a greater susceptibility to ear infections and hearing loss
- breathing problems caused by small chests
- weight problems
- curvature of the spine (scoliosis, kyphosis, and/or lordosis)
- bowed legs
- trouble with joint flexibility and early arthritis
- lower back pain or leg numbness
- crowding of teeth
Not every type of dwarfism has all of these problems associated with it, and proper medical care can help with many of them. Surgery also can be used to improve some of the leg, hip, and spine problems people with dwarfism sometimes face.
Nonsurgical options can help, too — for instance, excessive weight can worsen many orthopedic problems, so a dietitian might help develop a healthy plan for shedding extra pounds. And doctors or physical therapists can recommend ways to increase physical activity without putting extra stress on the bones and joints.
Helping Your Child
Although types of dwarfism, and their severity and complications, vary from person to person, in general a child's life span is not affected by dwarfism. Although the Americans with Disabilities Act protects the rights of people with dwarfism, many members of the short-statured community don't feel that they have a disability.
You can help your child with dwarfism lead the best life possible by building his or her sense of independence and self-esteem right from the start.
Here are some general tips to keep in mind:
- Treat your child according to his or her age and developmental level, and not size. For example, a 2-year-old should not still be using a bottle, even if he or she is the size of a 1-year-old. And, if you expect a 6-year-old to clean up his or her room, don't make an exception simply because your child is small.
- Adapt to your child's limitations. Something as simple as a light switch extender and a well-placed step stool can give a short-statured child a sense of independence around the house.
- Present your child's condition — both to your child and to others — as a difference rather than a hindrance. Your attitude and expectations can have a significant influence on your child's self-esteem.
- Learn to outwardly deal with people's reactions, whether it's simple curiosity or outright ignorance, without anger. Address questions or comments as directly as possible, then take a moment to point out something special about your child. If your child is with you, this approach shows that you notice all the other qualities that make him or her unique and, importantly, that his or her dwarfism doesn't cause you any anger. It also helps prepare your child for dealing with these situations when you're not there.
- If your child is teased at school, don't overlook it. Talk to teachers and administrators to make sure your child is getting the support he or she needs.
- Encourage your child to find a hobby or activity to enjoy. If sports aren't going to be your child's thing, then maybe music, art, computers, writing, or photography will be.
- Finally, get involved with support associations like the Little People of America. Getting to know other people with dwarfism — both as peers and mentors — can show your child just how much he or she can achieve.
Reviewed by: Angela L. Duker, MS, CGC
Date reviewed: April 28, 2017