Saal Bulas syndrome
Saal Bulas Syndrome
Saal Bulas Syndrome (pronunciation: sahl boo-lahs sin-drohm), also known as Congenital Contractural Arachnodactyly (CCA), is a rare genetic disorder characterized by contractures of multiple joints, arachnodactyly (long, slender fingers and toes), and various other abnormalities.
Etymology
The syndrome is named after the two doctors, Howard M. Saal and Robert J. Bulas, who first described the condition in medical literature. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
The primary symptoms of Saal Bulas Syndrome include:
- Arachnodactyly - Abnormally long and slender fingers and toes.
- Contracture - Permanent shortening of a muscle or joint.
- Kyphosis - Excessive outward curvature of the spine, causing hunching of the back.
- Scoliosis - A sideways curvature of the spine.
Causes
Saal Bulas Syndrome is caused by mutations in the FBN2 gene. This gene provides instructions for producing a protein called fibrillin-2, which is a component of microfibrils. Microfibrils provide strength and flexibility to connective tissue.
Diagnosis
Diagnosis of Saal Bulas Syndrome is based on clinical examination, family history, and genetic testing of the FBN2 gene.
Treatment
Treatment for Saal Bulas Syndrome is symptomatic and supportive. Physical therapy and orthopedic procedures may be necessary to improve mobility and manage skeletal abnormalities.
See Also
External links
- Medical encyclopedia article on Saal Bulas syndrome
- Wikipedia's article - Saal Bulas syndrome
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