Osmed syndrome

Osmed syndrome is a rare genetic disorder characterized by severe skeletal dysplasia, sensorineural hearing loss, and distinct facial features. The syndrome is also known as Otospondylomegaepiphyseal dysplasia and is classified under the broader category of congenital disorders.

Etiology

Osmed syndrome is caused by mutations in the COL11A2 gene, which is responsible for the production of a component of type XI collagen. Collagen is a protein that provides structure and strength to the body's tissues, including the skeleton, ears, and eyes. Mutations in the COL11A2 gene disrupt the assembly of type XI collagen molecules, leading to the characteristic features of Osmed syndrome.

Clinical Features

Individuals with Osmed syndrome typically present with severe skeletal dysplasia, which includes short stature, kyphoscoliosis, and abnormalities of the vertebrae, ribs, and long bones. Sensorineural hearing loss is also a common feature, often present from birth. Distinct facial features include a prominent forehead, wide-set eyes (hypertelorism), a flat midface, and a small lower jaw (micrognathia).

Diagnosis and Management

Diagnosis of Osmed syndrome is based on clinical features and confirmed by genetic testing for mutations in the COL11A2 gene. Management is supportive and may include hearing aids for sensorineural hearing loss, physical therapy for skeletal abnormalities, and orthopedic interventions as needed.

Prognosis

The prognosis for individuals with Osmed syndrome varies depending on the severity of symptoms. With appropriate management, many individuals can lead productive lives. However, complications such as progressive hearing loss and skeletal deformities can impact quality of life.

See Also

• Genetic disorders
• Skeletal dysplasia
• Sensorineural hearing loss
• Congenital disorders

NIH genetic and rare disease info

• NIH info on Osmed syndrome

Osmed syndrome is a rare disease.

Osmed syndrome Resources
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