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Results 1 - 4 of 4 for Otospondylomegaepiphyseal dysplasia
  1. Otospondylomegaepiphyseal dysplasia 
    Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  2. Weissenbacher-Zweymüller syndrome 
    ... condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of ... the disorder in their family. Heterozygous ... dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  3. COL11A2 gene 
    ... the COL11A2 gene have been found to cause otospondylomegaepiphyseal dysplasia (OSMED), a disorder characterized by skeletal abnormalities, distinctive ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  4. Stickler syndrome 
    ... Hereditary arthro-ophthalmopathy Stickler dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics