Strudwick syndrome

Strudwick syndrome is a rare genetic disorder characterized by skeletal abnormalities. It is also known as Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD, Strudwick type). The syndrome is named after the physician who first described it, Dr. M. Strudwick.

Symptoms and Characteristics

The primary characteristics of Strudwick syndrome include dwarfism, abnormal curvature of the spine (scoliosis and kyphosis), and malformations of the chest, hips, ankles, and wrists. Individuals with this syndrome often have a distinctive "waddling" gait due to hip deformities. Other features may include myopia, hearing loss, and early-onset arthritis.

Genetics

Strudwick syndrome is caused by mutations in the COL2A1 gene, which provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the cartilage and is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which leads to the signs and symptoms of Strudwick syndrome.

Diagnosis and Treatment

Diagnosis of Strudwick syndrome is based on physical examination, patient history, and radiographic findings. Genetic testing can confirm the diagnosis. Treatment is symptomatic and supportive, and may include physical therapy, corrective surgery for bone abnormalities, and management of hearing loss and vision problems.

Epidemiology

Strudwick syndrome is extremely rare, with only a few cases reported in the medical literature. It affects both males and females equally.

See Also

• Spondyloepimetaphyseal dysplasia
• COL2A1
• Collagen

NIH genetic and rare disease info

• NIH info on Strudwick syndrome

Strudwick syndrome is a rare disease.

Strudwick syndrome Resources
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