Smith-Mccort Dysplasia 2

Alternative Names

  • SMC2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Smith-McCort dysplasia (SMC) 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, which is distinguished from SMC by the additional feature of mental retardation. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615222.2Saudi ArabiaFemaleNoYes Short statureNM_031296.3:c.136A>CHomozygousAutosomal, RecessiveMonies et al. 2019
615222.1.GSaudi ArabiaYesYes Short stature; Pectus carinatum; Hyperlo...NM_031296.3:c.136A>CHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Four related patient...
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