Exostoses, Multiple, Type I

Description

Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

Clinical Features

Top most frequent phenotypes and symptoms related to Exostoses, Multiple, Type I

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum
  • Flat face
  • Short metacarpal
  • Coxa vara
  • Hemangioma
  • Sarcoma

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Exostoses, Multiple, Type I Is also known as multiple cartilaginous exostoses, ext1, multiple osteochondromas, diaphyseal aclasis, ext, osteochondromatosis.

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.

Exostoses, Multiple, Type I 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
100 %
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
100 %
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
100 %
EXT1.

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

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

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

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

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

EXT1
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome].

By CGC Genetics (Portugal).

TRPS1, EXT1
Specificity
50 %
Genes
100 %

You can get up to 53 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VISCERAL MYOPATHY; VSCM TIBIAL HEMIMELIA GLYCOGEN STORAGE DISEASE V; GSD5 CYSTINOSIS, NEPHROPATHIC; CTNS DANON DISEASE CANDIDIASIS, FAMILIAL, 2; CANDF2