Leri-weill Dyschondrosteosis; Lwd

Table of contents:

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

Description

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

Genes related to Leri-weill Dyschondrosteosis; Lwd

SHOX

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Clinical Features

Top most frequent phenotypes and symptoms related to Leri-weill Dyschondrosteosis; Lwd

Short stature
Hearing impairment
Scoliosis
High palate
Severe short stature
Skeletal dysplasia
Arthralgia
Conductive hearing impairment
High, narrow palate
Limb undergrowth

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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

Leri-weill Dyschondrosteosis; Lwd Is also known as dyschondrosteosis, dco.

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.

Leri-weill Dyschondrosteosis; Lwd 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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