OMIM

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326). (615222)

MalaCards based summary

Smith-Mccort Dysplasia 2, also known as smc2, is related to pleural empyema and cornelia de lange syndrome, and has symptoms including short neck, genu valgum and pectus carinatum. An important gene associated with Smith-Mccort Dysplasia 2 is RAB33B (RAB33B, Member RAS Oncogene Family). Affiliated tissues include bone.

UniProtKB/Swiss-Prot

Smith-McCort dysplasia 2: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is 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.