Smith-mccort Dysplasia 2; Smc2

Description

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 ), 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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Smith-mccort Dysplasia 2; Smc2

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia
  • Abnormality of the skeletal system
  • Short neck
  • Kyphosis
  • Severe short stature
  • Posteriorly rotated ears

And another 35 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Smith-mccort Dysplasia 2; Smc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Smith-McCort Dysplasia.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

RAB33B
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Dyggve-Melchior-Clausen disease Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RAB33B, DYM
Specificity
50 %
Genes
100 %
Dyggve-Melchior-Clausen disease Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RAB33B, DYM
Specificity
50 %
Genes
100 %
Dyggve-Melchior-Clausen disease NGS panel.

By Connective Tissue Gene Tests (United States).

RAB33B, DYM
Specificity
50 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Smith-McCort dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RAB33B, DYM
Specificity
50 %
Genes
100 %
Smith-McCort dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

RAB33B, DYM
Specificity
50 %
Genes
100 %

We have 8 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 SPINOCEREBELLAR ATAXIA 41; SCA41 DIABETES MELLITUS, KETOSIS-PRONE; KPD KEARNS-SAYRE SYNDROME; KSS PRADER-WILLI SYNDROME; PWS BIRK-LANDAU-PEREZ SYNDROME; BILAPES NEPHROTIC SYNDROME, TYPE 2; NPHS2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more