Multiple Osteochondromas

Description

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Osteochondromas

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Anteverted nares
  • Abnormality of the dentition
  • Dilatation
  • Abnormal pyramidal sign
  • Genu valgum

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available MULTIPLE OSTEOCHONDROMAS have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Multiple Osteochondromas Is also known as multiple cartilaginous exostoses, bessel-hagen disease.

Researches and researchers

Doctors, researchs, and experts related to Multiple Osteochondromas extracted from public data.

Multiple Osteochondromas Experts map



Current Researchs and researchers

  • ANTWERPEN-EDEGEM — Pr Wim WUYTS

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers of malignant transformation of osteochondromas.


  • BOLOGNA — Dr Luca SANGIORGI

    Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of expert centre network - Director of laboratory

    • Institution/s:
      — Dipartimento Patologie Ortopediche-Traumatologiche Specialistiche, Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
      — Dipartimento di Patologie Ortopediche-Traumatologiche Specialistiche, Istituto Ortopedico Rizzoli - Ospedale
    • Research area/topic::

      Evaluation of genotype-phenotype correlation in patients with hereditary multiple exostoses and definition of a diagnostic and clinical course


Multiple Osteochondromas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Multiple Osteochrondomas-HMO.

By Genetics Laboratory Shodair Children's Hospital (United States).

EXT1
Specificity
100 %
Genes
50 %
EXT1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

EXT1
Specificity
100 %
Genes
50 %
EXT1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

EXT1
Specificity
100 %
Genes
50 %
EXT1.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital (Belgium).

EXT1
Specificity
100 %
Genes
50 %
EXT1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

EXT1
Specificity
100 %
Genes
50 %
EXT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

EXT1
Specificity
100 %
Genes
50 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
2 %
Genes
100 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome].

By CGC Genetics (Portugal).

TRPS1, EXT1
Specificity
50 %
Genes
50 %

You can get up to 73 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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