Details of Disease

General Information of Disease (ID: DIS18P12)

• Disease Name: Smith-McCort dysplasia
• Synonyms: Smith-McCort dwarfism; Smith McCort dysplasia
• Definition: 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 Hierarchy:
  DIS1JG9A: Spondyloepiphyseal dysplasia
  DIS18P12: Smith-McCort dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0015799
  UMLS CUI: C1846431
  MedGen ID: 375887
  Orphanet ID: 178355
  SNOMED CT ID: 715862006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CXCL17	OTRCEVIZ	Limited	Genetic Variation	[1]
DYM	OTQ670WI	Supportive	Autosomal recessive	[2]
RAB33B	OTPZ3EJL	Supportive	Autosomal recessive	[3]

References

• [1] Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27.
• [2] Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. doi: 10.1016/j.ymgme.2004.08.012.
• [3] Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet. 2012 Jul;49(7):455-61. doi: 10.1136/jmedgenet-2011-100666. Epub 2012 May 31.