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Smith-McCort dysplasia

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
Disease Ontology Description A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
Mondo Term and Equivalent IDs
MONDO:0015799:  Smith-McCort dysplasia
GARD:0010620: 
MESH:C564589: 
OMIMPS:607326: 
Orphanet:178355: 
SCTID:715862006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)