About Disorders of Bone Growth
Skeletal dysplasias, or osteochondrodysplasias, represent a group of rare genetic disorders that primarily affect bone and cartilage development but can also affect muscle, tendons and ligaments. They can lead to short stature and skeletal abnormalities, cause functional limitations and have serious, sometimes life-threatening, health risks if left untreated. These disorders can present at any time, from the prenatal period through adulthood, and may be associated with craniofacial deformities and multiorgan system complications, including auditory, visual, neurologic, pulmonary, cardiac, renal and psychological impairments. Since treatments are available for certain osteochondrodysplasias, early diagnosis can be important.
Advanced Screening, Diagnostics & Treatments
Our multidisciplinary team of world-renowned orthopedic surgeons, neurosurgeons, neurologists, ophthalmologists, pulmonologists and geneticists, among others, specializes in the prevention, early detection and treatment of rare disorders of bone growth. We offer comprehensive, personalized care focused on restoring and preserving function and optimizing health and quality of life. We use the latest prenatal and postnatal screening and diagnostics, including advanced imaging and massively parallel sequencing, to facilitate precision medicine treatment plans. The emergence of treatments for certain skeletal dysplasias, including cellular, gene and pharmacological therapy and enzyme drug replacement, offers promise for various conditions. In cases where surgery is necessary, our internationally recognized orthopedic surgeons and neurosurgeons offer open and minimally invasive surgical options, including limb lengthening and deformity correction procedures.
We’re ranked in the top 1% of all hospitals in the nation for orthopedics, neurology and neurosurgery, according to U.S. News & World Report.
Learn More About Disorders of Bone Growth
Receiving a diagnosis of a rare disorder of bone growth, or being at risk for or suspected of having one, can feel overwhelming, but learning more about the diagnosis can help you navigate treatment and care. Visit the links below to learn more about some of the different types of rare disorders, their causes, and associated symptoms as well as screening and treatment options. This list includes a selection of rare disorders of bone growth. Schedule a consultation with us for diagnosis and treatment options for these or any other rare conditions.
Learn More About Abnormalities of Skeletal Dysplasia
Pediatric Medical Genetics Clinic
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