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Skeletal dysplasia

Skeletal dysplasia

Skeletal dysplasia is characterized by bone and cartilage growth anomalies that may result in deformities of the limbs and spine. There are more than 400 known types of skeletal dysplasia and most of them are due to inherited genetic defects. As the management of children with skeletal dysplasia is very challenging, the Canada Shriners Hospital is committed to providing support to families and full-service care to children in multidisciplinary clinics that can include the expertise of pediatricians, physiotherapists, occupational therapists and allied health care professionals.

In addition to orthopaedic surgical treatment, many children can benefit from medical treatment available in our hospital, such as enzyme replacement therapy for children with storage diseases (Morquio syndrome). Orthopaedic treatment includes surgical correction of upper and lower limb deformities, as well as spinal deformities.

Achondroplasia is a form of short-limbed dwarfism. It is one of the most common forms of dysplasia. It is characterized by an abnormality in the growth plate of long bones, leading to stunted growth. Normally, cartilage converts to bone during the years of growth (this is called ossification). The medical treatment for this condition is presently under investigation.

Diastrophic dwarfism, which is also known as diastrophic dysplasia, is a rare and extremely severe disorder that is diagnosed at birth. The disorder is often characterized by short stature and unusually short arms and legs, the abnormal development of bones and joints in many areas of the body that may lead to severe deformities, progressive abnormal curvature of the spine, changes to the outer portions of the ears, and in some cases, malformations of the head and face.

Hereditary multiple exostoses (osteochondromas) is a rare genetic disorder characterized by multiple benign bone tumors that are covered by cartilage. They are most likely located on the growing end of the long bones of the legs, arms, and fingers or toes. These noncancerous tumors usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion.

Larsen's syndrome is a form of skeletal dysplasia that is characterized by multiple joint dislocations and unusual facial structure. Children normally present with a variety of symptoms, including dislocation of the knees at birth, dislocation of the hips and elbows, flattened facial appearance with a prominent forehead and a depressed nasal bridge. In addition to orthopaedic issues, Larsen syndrome can also cause a variety of cardiovascular abnormalities.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) was first named and described over 30 years ago due to the unusual series of symptoms that included fractures of the spinal column (without accident), very low bone density, crumbling teeth and large collar bones. Shriners Hospitals for Children — Canada researchers discovered that part of the RUNX2 gene was duplicated, and therefore caused a disease called metaphyseal dysplasia with maxillary hypoplasia and brachydactyly or MDMHB. They were able to link the unusual series of symptoms observed in patients to the changes observed in the RUNX2 gene, which is essential for creating bone forming cells. In doing so, they established that these changes in the RUNX2 gene result in disordered bone cell production, which is the cause of MDMHB. As a result, patients can now be diagnosed earlier for allowing for better care and management.

Morquio syndrome is an inherited progressive condition that affects major organ systems in the body. Symptoms usually begin to appear between the ages of 12 and 36 months. Babies born with Morquio syndrome are missing or don't make enough of an important enzyme needed to break sugar chains into simpler molecules, or they produce enzymes that do not work normally. As a result, these sugars eventually build up in tissues, bones and major organ systems, causing damage over time as the child ages. This can induce serious problems, including heart disease, skeletal abnormalities, vision and hearing loss and difficulty breathing, all leading to early death if not treated.

Ollier disease is a rare skeletal disorder characterized by abnormal bone development at birth. The disorder may not become visible until early childhood when symptoms, such as deformities or improper limb growth, become obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs. It may also affect the pelvis, ribs, sternum and skull. Ollier disease is characterized by a greater than normal growth of the cartilage in the long bones of the legs and arms. These masses of cartilage are benign tumors known as enchondromas. These noncancerous tumors may occur at any time. After puberty, these growths stabilize as cartilage is replaced by bone.