Smith McCort dysplasia

Common Name(s)

Smith McCort dysplasia

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC ({6:Spranger et al., 1976}; {3:Nakamura et al., 1997}). Genetic Heterogeneity of Smith-McCort Dysplasia Smith-McCort dysplasia-2 (SMC2; {615222}) is caused by mutation in the RAB33B gene ({605950}) on chromosome 18p.
 

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Condition Specific Organizations

Following organizations serve the condition "Smith McCort dysplasia" for support, advocacy or research.

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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 "Smith McCort dysplasia" returned 2 free, full-text research articles on human participants. First 3 results:

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).
 

Author(s): Ilkay Koray Bayrak, Mehmet Selim Nural, H BariƟ Diren

Journal: Diagn Interv Radiol. 2005 Sep;11(3):163-5.

 

Radiographic features of a 15-year-old boy with Smith-McCort dysplasia are presented. Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia. Both of these syndromes are rare autosomal recessive ...

Last Updated: 5 Oct 2005

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Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
 

Author(s): Nadia Ehtesham, Rita M Cantor, Lily M King, Kent Reinker, Berkley R Powell, Alan Shanske, Sheila Unger, David L Rimoin, Daniel H Cohn

Journal: Am. J. Hum. Genet.. 2002 Oct;71(4):947-51.

 

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy ...

Last Updated: 25 Sep 2002

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Reviews from the PubMed Database

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The terms "Smith McCort dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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