LÉri-weill Dyschondrosteosis

Description

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to LÉri-weill Dyschondrosteosis

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness
  • Genu valgum
  • Micromelia
  • Abnormality of the metaphysis
  • Abnormality of epiphysis morphology
  • Disproportionate short-limb short stature

And another 27 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.

Alternative names

LÉri-weill Dyschondrosteosis Is also known as lÉri-weill syndrome.

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.

LÉri-weill Dyschondrosteosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SHOX (GHD) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

SHOX
Specificity
100 %
Genes
100 %
Growth Hormone Deficiency (GHD) Evaluation.

By Athena Diagnostics Inc (United States).

SHOX, GH1, GHRHR
Specificity
34 %
Genes
100 %
SHOX Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SHOX
Specificity
100 %
Genes
100 %
SHOX Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SHOX
Specificity
100 %
Genes
100 %
SHOX. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SHOX
Specificity
100 %
Genes
100 %
SHOX. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SHOX
Specificity
100 %
Genes
100 %
SHOX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SHOX
Specificity
100 %
Genes
100 %
SHOX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SHOX
Specificity
100 %
Genes
100 %

You can get up to 66 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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