Skeletal Dysplasia

Symptoms

The specific symptoms will vary with the type of skeletal dysplasia and its cause. In general, skeletal dysplasia is associated with abnormalities in the size and shape of arms, legs, the trunk or the skull. As a result a person with skeletal dysplasia maybe unusually short with limbs that are out of proportion to the rest of the body.

Causes and Risk Factors for Skeletal Dysplasias

The causes of skeletal dysplasias can be due to many types of genetic abnormalities that are often difficult to determine as well as to treat. Skeletal dysplasias are caused by genetic mutations and can run in families. Often the disorders appear without any family history of skeletal dysplasia.

Diagnosis

Skeletal dysplasias can be diagnosed by clinical, radiographic and/or pathological evaluation. Imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) scans can identify the bone abnormalities more precisely.

Treatment

The skeletal dysplasia clinic at Cedars-Sinai Medical Center is a partnership of the Medical-Genetics Institute, Cedars-Sinai Orthopaedics and the Neurosurgical Institute.

The clinic is designed specifically to serve individuals and families with all types of bone and connective tissue disorders - providing expert knowledge and care for patients with these conditions. A typical clinic visit involves a thorough evaluation by a specialized doctor, medical geneticist and expert in the field of skeletal dysplasias. Patients may also meet with a genetic counselor and/or social worker for further assistance. All surgical treatment is done by the Cedars-Sinai specialists in orthopaedics, neurosurgery, otolaryngology, ophthalmology and other specialists as required.

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