LÉri-weill Dyschondrosteosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to LÉri-weill Dyschondrosteosis

SHOX

View recommended genes panels

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

— 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.

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