Langer Mesomelic Dysplasia

Table of contents:

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

Description

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Genes related to Langer Mesomelic Dysplasia

SHOX

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Langer Mesomelic Dysplasia

Micrognathia
High palate
Severe short stature
Micromelia
Lumbar hyperlordosis
Bowing of the long bones
Abnormality of epiphysis morphology
Disproportionate short-limb short stature
Hypoplasia of the radius
Hypoplasia of the ulna

And another 14 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

Langer Mesomelic Dysplasia Is also known as mesomelic dwarfism, langer type, mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, dyschondrosteosis, homozygous.

Researches and researchers

Doctors, researchs, and experts related to Langer Mesomelic Dysplasia extracted from public data.

Langer Mesomelic Dysplasia Experts map

Current Researchs and researchers

HEIDELBERG — Pr Gudrun RAPPOLD
Investigator of research project - Manager of registry - Director of department
- Institution/s:
  — Institut für Humangenetik am Universitätsklinikum Heidelberg
- Research area/topic::
  Characterization of SHOX functions in bone formation: Identification of target genes and interacting proteins

Langer Mesomelic Dysplasia 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

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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