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.

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Incidence and onset information

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.


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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 %

We have 66 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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