Multicentric Osteolysis, Nodulosis, And Arthropathy; Mona

Description

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

Clinical Features

Top most frequent phenotypes and symptoms related to Multicentric Osteolysis, Nodulosis, And Arthropathy; Mona

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract
  • Flexion contracture
  • Brachydactyly
  • Gait disturbance
  • Frontal bossing
  • Kyphosis

And another 62 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Multicentric Osteolysis, Nodulosis, And Arthropathy; Mona Is also known as osteolysis, hereditary multicentric, torg syndrome, al-aqeel sewairi syndrome, nodulosis-arthropathy-osteolysis syndrome, torg-winchester syndrome, formerly, nao syndrome.

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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Multicentric Osteolysis, Nodulosis, And Arthropathy; Mona Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MMP2 - Torg Winchester syndrome.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

MMP2
Specificity
100 %
Genes
100 %
Multicentric osteolysis, nodulosis and arthropathy (sequence analysis MMP2 gene).

By CGC Genetics (Portugal).

MMP2
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BMP1, SEC24D, SPARC, WNT1, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, ANO5, ALPL, LRP5, MMP2, P4HB, SERPINF1, PLOD2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Multicentric osteolysis, nodulosis, and arthropathy.

By Centogene AG - the Rare Disease Company (Germany).

MMP2
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

TNFRSF11A, TYROBP, ZMPSTE24, CASR, SERPINH1, ANKH, IFITM5, SP7, TREM2, FKBP10, ATP6V0A2, P3H1, CLCN5, SLC34A3, COL1A2, CRTAP, GORAB, ANO5, DMP1, ENPP1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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