Smith-Mccort Dysplasia 1

Alternative Names

  • SMC1
  • SMC

Associated Genes

Dymeclin
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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

607326

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.1

Description

Smith-McCort dysplasia (SMC) 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 (DMC). Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC. [From OMIM]

Smith-McCort dysplasia 1 is associated with mutations in DYM  gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
607326.G.1Saudi ArabiaFemaleYesYes Intellectual disability; Microcephaly; P...NM_017653.6:c.1860+1G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Three related patien...
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