Leri-weill Dyschondrosteosis; Lwd

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.

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

And another 28 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

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.


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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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