Langer Mesomelic Dysplasia

Description

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

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



Mendelian

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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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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