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Smith-McCort dysplasia(SMC1)

MedGen UID:
375887
•Concept ID:
C1846431
•
Disease or Syndrome
Synonym: SMC1
SNOMED CT: Smith McCort dysplasia (715862006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015799
OMIM® Phenotypic series: PS607326
Orphanet: ORPHA178355

Definition

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. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). Genetic Heterogeneity of Smith-McCort Dysplasia Smith-McCort dysplasia-2 (SMC2; 615222) is caused by mutation in the RAB33B gene (605950) on chromosome 4q31. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmith-McCort dysplasia

Recent clinical studies

Etiology

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, Şimşek-Kiper PÖ
Am J Med Genet A 2024 Oct;194(10):e63785. Epub 2024 Jun 11 doi: 10.1002/ajmg.a.63785. PMID: 38860472
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M
J Med Genet 2023 Feb;60(2):204-211. Epub 2022 Apr 27 doi: 10.1136/jmedgenet-2021-108098. PMID: 35477554
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O
BMC Musculoskelet Disord 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2. PMID: 34284742Free PMC Article

Diagnosis

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, Şimşek-Kiper PÖ
Am J Med Genet A 2024 Oct;194(10):e63785. Epub 2024 Jun 11 doi: 10.1002/ajmg.a.63785. PMID: 38860472
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM
Hum Mutat 2022 May;43(5):625-642. Epub 2022 Mar 21 doi: 10.1002/humu.24368. PMID: 35266227
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Tüysüz B, Geyik F, Yıldırım T, Alkaya DU, Sharifova S, Kafadar A
Eur J Med Genet 2021 Jul;64(7):104248. Epub 2021 May 14 doi: 10.1016/j.ejmg.2021.104248. PMID: 34000439
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM
Am J Med Genet A 2017 Mar;173(3):588-595. Epub 2017 Jan 27 doi: 10.1002/ajmg.a.38064. PMID: 28127940
A novel RAB33B mutation in Smith-McCort dysplasia.
Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V
Hum Mutat 2013 Feb;34(2):283-6. Epub 2012 Nov 8 doi: 10.1002/humu.22235. PMID: 23042644

Prognosis

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, Şimşek-Kiper PÖ
Am J Med Genet A 2024 Oct;194(10):e63785. Epub 2024 Jun 11 doi: 10.1002/ajmg.a.63785. PMID: 38860472
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O
BMC Musculoskelet Disord 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2. PMID: 34284742Free PMC Article
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731

Clinical prediction guides

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, Şimşek-Kiper PÖ
Am J Med Genet A 2024 Oct;194(10):e63785. Epub 2024 Jun 11 doi: 10.1002/ajmg.a.63785. PMID: 38860472
Functional Roles of CD26/DPP4 in Bleomycin-Induced Pulmonary Hypertension Associated with Interstitial Lung Disease.
Okaya T, Kawasaki T, Sato S, Koyanagi Y, Tatsumi K, Hatano R, Ohnuma K, Morimoto C, Kasuya Y, Hasegawa Y, Ohara O, Suzuki T
Int J Mol Sci 2024 Jan 6;25(2) doi: 10.3390/ijms25020748. PMID: 38255821Free PMC Article
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O
BMC Musculoskelet Disord 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2. PMID: 34284742Free PMC Article
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Tüysüz B, Geyik F, Yıldırım T, Alkaya DU, Sharifova S, Kafadar A
Eur J Med Genet 2021 Jul;64(7):104248. Epub 2021 May 14 doi: 10.1016/j.ejmg.2021.104248. PMID: 34000439
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH
Am J Hum Genet 2002 Oct;71(4):947-51. Epub 2002 Aug 2 doi: 10.1086/342669. PMID: 12161821Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

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    • ClinVar
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    • GTR(Clinical)
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