Spondylo-megaepiphyseal-metaphyseal dysplasia

Common Name(s)

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by {2:Hellemans et al., 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylo-megaepiphyseal-metaphyseal dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spondylo-megaepiphyseal-metaphyseal dysplasia" returned 1 free, full-text research articles on human participants. First 3 results:

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
 

Author(s): Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga, Geert Mortier

Journal: Am. J. Hum. Genet.. 2009 Dec;85(6):916-22.

 

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. The limbs appear relatively long and may show flexion ...

Last Updated: 16 Dec 2009

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The terms "Spondylo-megaepiphyseal-metaphyseal dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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