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Otospondylomegaepiphyseal dysplasia Treatment and Symptoms


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Otospondylomegaepiphyseal dysplasia

Chondrodystrophy with sensorineural deafness; Insley-Astley syndrome; Mega-epiphyseal dwarfism; Nance-Insley syndrome; Nance-Sweeney chondrodysplasia; OSMED; Oto-spondylo-megaepiphyseal dysplasia 


Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses). The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI. The distinctive characteristics of OSMED include severe bone and joint problems and very severe hearing loss. This disorder affects the epiphyses, the parts of the bone where growth occurs. People with the condition are often shorter than average because the bones in their arms and legs are unusually short. Other skeletal signs include enlarged joints, short hands and fingers, and flat bones of the spine (vertebrae). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common. Typical facial features include protruding eyes; a sunken nasal bridge; an upturned nose with a large, rounded tip; and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth, which is called a cleft palate.

GoldBamboo

... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses). The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome.

Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI.

The distinctive characteristics of OSMED include severe bone and joint problems and very severe hearing loss. This disorder affects the epiphyses, the parts of the bone where growth occurs. People with the condition are often shorter than average because the bones in their arms and legs are unusually short. Other skeletal signs include enlarged joints, short hands and fingers, and flat bones of the spine (vertebrae). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common. Typical facial features include protruding eyes; a sunken nasal bridge; an upturned nose with a large, rounded tip; and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth, which is called a cleft palate. ...

Genetics Home Reference - more...

Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone ...
Wikipedia - [full article]

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Otospondylomegaepiphyseal dysplasia
... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condit...
Source: Genetics Home Reference

   

Otospondylomegaepiphyseal dysplasia Articles

  • Otospondylomegaepiphyseal dysplasia
    ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condit...



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November 23, 2009



Page Updated: September 6, 2005
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