Clinic Overview

The Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children at UAB is a multidisciplinary clinic established to better serve the needs of patients connective tissue disorders and skeletal dysplasias. This clinic, serving individuals from birth through adulthood, is the only such clinic in Alabama and is supported by funding from UABHSF. The clinics provides diagnosis, treatment, and follow-up care for patient who have abnormalities of skeletal growth, bone density, hyperlaxity, and strength.

Skeletal dysplasias are a heterogeneous group of disorders that affect bone and cartilage resulting in abnormal growth and development of the skeleton. Shortness of stature is often a severe impediment that affects everyday living. Individuals may find it difficult to adapt to society or the workplace, participate in school or recreational activities, and socialize in general.

In addition to physical characteristics, people with skeletal dysplasias may have many other health-related problems such as spine and joint disorders; heart defects; ear, nose, and throat problems; and neurologic disability.

Connective tissue disorders are an even more diverse group of diseases affecting the amount and function of proteins that support and form our organs and tissues in the body. These disorders may be inherited (e.g., Marfan syndrome, Ehlers-Danlos, osteogenesis imperfecta, and epidermolysis bullosa) as the primary symptom of a disorder or as part of another genetic syndrome (e.g., lysosomal storage disorders). Other causes include infections or immunological or unknown causes.

Services Provided
This clinic will provide or coordinate care for patient with the following specialties: genetics, genetic counseling, pediatric and adult spine surgery, ENT, primary care, surgical care, pediatric and adult neurology and neurosurgery, medical and surgical care of the eyes, urology, cardiology, endocrinology, hand surgery, nephrology, joint surgery, pulmonary medicine, gastroenterology, physical and occupational therapy, speech and hearing, social services, pain management, nutrition services; and orthotics (bracing). This clinic interfaces with the Division of Maternal and Fetal Medicine to provide consultative services for expectant families with suspected skeletal dysplasia or birth defects.

Clinic Time
The second Wednesday of each month; appointments are accepted from referring physicians or directly from patients

Clinic Location
Kaul Human Genetics Building
720 20th Street South
Birmingham, AL 35233

Make an Appointment 
Call (205) 934-4983

Related Articles and Information

UAB Center for Metabolic Bone Disease (CMBD)

Little People of America

Ehlers-Danlos National Foundation

Osteogenesis Imperfecta Foundation

Connective tissue disorders (from the NIH's MedlinePlus)

Skeletal dysplasias (from Medscape)