What is Skeletal Dysplasia?
Skeletal (bone) dysplasias are a group of more than 300 disorders in which the cartilage or bone does not grow as expected. These disorders can result in short stature, soft or brittle bones, other physical features, and/or impaired bone and joint function. Some common features of skeletal dysplasia include short stature, multiple broken bones, and bone abnormalities that can be seen on X-ray. The features differ between the various types of skeletal dysplasias. It is estimated that one in every 2,000-3,000 children born in the United States has a skeletal dysplasia. Some skeletal dysplasias are detected before birth, others are identified just after a child is born or during infancy, and some others are not evident until later in childhood as the skeleton matures. The team of specialists at the Skeletal Dysplasia Center at Cincinnati Children’s Hospital is able to work with individuals at any point in their diagnosis.
Different types of skeletal dysplasias have different etiologies or causes. Most types of skeletal dysplasias can be diagnosed with a clinical exam and X-rays. Sometimes a genetic blood test can help with the diagnosis of a specific type of skeletal dysplasia.
Specific types of skeletal dysplasias:
Achondroplasia
Apert syndrome
Atelosteogenesis
Campomelic dysplasia
Cartilage-hair hypoplasia
Diastrophic dysplasia
Ellis-van Creveld syndrome
Hypochondroplasia
Kniest dysplasia
Metaphyseal chondrodysplasia
Morquio syndrome
Multiple epiphyseal dysplasia
Nail Patella syndrome
Osteogenesis imperfecta
Pseudoachondroplasia
Spondyloepiphyseal dysplasia
Stickler syndrome (.pdf)
Thanatophoric dysplasia
