Skeletal dysplasia

Overview

Type of disease: Rare conditions

Skeletal dysplasia refers to a group of disorders causing abnormal bone and cartilage growth. There are more than 350 types of skeletal dysplasias, ranging in severity from having minimal effects on daily life to being universally fatal. Skeletal dysplasias are the most common causes of dwarfism. Skeletal dysplasia occurs in about 0.02% of all births, although the symptoms are typically not noticeable until later in childhood. Skeletal dysplasia may be caused by inherited genes, random mutations or changes in genes, or exposure to toxins that disrupt normal skeletal development.

Common symptoms of skeletal dysplasia include joint pain, clubbed feet, scoliosis, and short fingers. Individuals affected by skeletal dysplasia will often have shortened height, shortened or differing bone lengths in the arms and legs, and irregular thickness of bones. Skeletal dysplasia may also cause bones to become curved (bowed) or easily fractured. Other common symptoms include abnormal ribs, missing limbs, too many fingers or toes, and a small thorax, which is the area between the neck and the abdomen. Improper bone growth may also delay development and impair mental functioning. Children diagnosed with skeletal dysplasia should be examined by specialists to ensure healthy development of the brain and spinal cord.

Diagnosis of skeletal dysplasia may be difficult until after childhood growth may be assessed. Comparing the size of the upper and lower limbs of the body may help determine the presence of abnormalities. Medical imaging and genetic testing are also used to diagnose skeletal dysplasia. Treatment for skeletal dysplasia depends on the subtype and symptoms affecting the individual. Fatal forms will result in premature death, while other forms will allow the individual to live a normal life with minimal treatment or intervention. If you or your child has been diagnosed with skeletal dysplasia, talk to your doctor about the most current treatment options.

Connect. Empower. Inspire.