December 22, 2009
BIRMINGHAM, Ala. - The University of Alabama at Birmingham (UAB) has opened the state's first full-service clinic for patients with bone dysplasia and connective tissue disorder. The clinic, serving infants, adolescents and adults, provides diagnosis, treatment and follow-up care for patients who have abnormalities of skeletal growth, bone density, joint flexibility and strength.
The Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children will be a multidisciplinary clinic housed within the Department of Genetics. It will meet in the genetics clinics in the Hugh Kaul Human Genetics Building on the second Wednesday of each month. Appointments are accepted from referring physicians or directly from patients.
Bone dysplasias are a related group of disorders that affect bone and cartilage result in abnormal growth and development of the skeleton. Shortness of stature is a frequent result, affecting everyday living. Individuals may find it difficult to adapt to society or the workplace, participate in school or recreational activities or to socialize in general. People with skeletal dysplasia may have other health-related problems, such as spine and joint disorders, heart defects, ear, nose and throat problems and neurologic disability.
Connective tissue disorders are a more diverse group of conditions affecting the amount and function of proteins that support and form organs and tissues in the body. These disorders may be inherited, such as Ehlers-Danlos syndrome, or be part of another genetic syndrome, such as lysosomal storage disorders.
This clinic will interact with a number of specialties to provide or coordinate care for patients, including surgery, ENT, primary care, neurology, ophthalmology, optometry, urology, cardiology, endocrinology, nephrology, pulmonary medicine, gastroenterology, physical and occupational therapy, speech and hearing, social services, pain management, nutrition services and orthotics. The clinic works with the Department of Maternal Fetal Medicine to provide consultative services for expectant families with suspected skeletal dysplasia or birth defects.
To schedule an appointment or get more information, call 205-934-9527 or e-mail bonedyspasia@genetics.uab.edu.
About the UAB Department of Genetics
The UAB Department of Genetics is comprised of an interdisciplinary group of faculty focused on performing basic laboratory and clinical research, providing inpatient and outpatient consultation services, and offering state-of-the-art genetic diagnostic testing.