Skeletal 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, physical disfigurement and impaired bone and joint function. Adults and children with skeletal dysplasia often have problems such as short stature, multiple broken bones or bone abnormalities that can be seen on X-ray. 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, while others are identified just after a child is born or during infancy. Still, 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 is able to work with individuals at any point in their diagnosis. We are one of the few centers able to care for both children and adults of all ages. We provide exceptional continuity of care for young people as they transition into adulthood, allowing patients to remain in the care of experts who are familiar with their health history and who can help them stay as healthy and active as possible.
When your physician suspects a prenatal diagnosis of a skeletal dysplasia, our specialists can begin care before your baby is born. We help parents with skeletal dysplasia or who have had another child with a skeletal dysplasia by using genetic testing – often available with an amniocentesis or chorionic villus sampling – to check for the disease in the baby. We may also recommend genetic testing when a skeletal dysplasia is suspected prenatally, even without a positive family history. Ultrasounds can also detect skeletal dysplasias, although not all skeletal dysplasias are detected by ultrasound alone. We use fetal MRIs, ultrasounds, and genetic testing to provide more information about a possible prenatal diagnosis and clues to the severity of the condition. Specialists from our center can meet with women and couples and explain the most likely diagnosis and prognosis.