Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Classification and external resources
OMIM 215150
DiseasesDB 32024

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive 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.

Contents

Diagnosis

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.

Pathophysiology

Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance.

Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production of type XI collagen. This type of collagen is important for the normal development of bone and other connective tissues. Mutations in the COL11A2 gene lead to a loss of function of this type of collagen, resulting in the signs and symptoms of OSMED.

OSMED is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - must be inherited for a person to be affected by the disorder. The parents of a child with an autosomal recessive disorder are usually not affected but are carriers of one copy of the altered gene. A recessive pattern of inheritance makes OSMED unique among the type II and type XI collagenopathies.

Epidemiology

The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported.

References

External links

This article incorporates public domain text from The U.S. National Library of Medicine


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… …   Medical dictionary

  • Multiple epiphyseal dysplasia — Classification and external resources ICD 9 756.56 OMIM 132400 226900 …   Wikipedia

  • Diastrophic dysplasia — Classification and external resources OMIM 222600 DiseasesDB 30759 eMedicine …   Wikipedia

  • Thanatophoric dysplasia — Classification and external resources ICD 10 Q77.1 OMIM 187600 DiseasesDB …   Wikipedia

  • Kniest dysplasia — Classification and external resources ICD 10 Q77.8 OMIM 156550 DiseasesDB …   Wikipedia

  • Metaphyseal dysplasia — Classification and external resources ICD 10 Q78.5 ICD 9 756.9 …   Wikipedia

  • Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

  • Collagenopathy, types II and XI — The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body s joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex… …   Wikipedia

  • Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

  • COL11A2 (gene) — Collagen, type XI, alpha 2, also known as COL11A2, is a human gene.cite web | title = Entrez Gene: COL11A2 collagen, type XI, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1302| accessdate = ] PBB …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”