Metaphyseal Anadysplasia

Description

Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

Clinical Features

Phenotypes and symptoms related to Metaphyseal Anadysplasia

  • Short stature
  • Joint stiffness
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Abnormality of epiphysis morphology
  • Aplasia/Hypoplasia of the radius
  • Abnormality of the ulna
  • Abnormality of the lower limb
  • Abnormality of ulnar metaphysis

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

Metaphyseal Anadysplasia Is also known as maroteaux-verloes-stanescu syndrome, regressive metaphyseal dysplasia.

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.

Metaphyseal Anadysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Metaphyseal anadysplasia 2 (sequence analysis of MMP9 gene).

By CGC Genetics (Portugal).

MMP9
Specificity
100 %
Genes
50 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics (Portugal).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)

View the complete list with 9 more genes
Specificity
7 %
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 %
Metaphyseal anadysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
100 %
Genes
100 %
Metaphyseal anadysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
100 %
Genes
100 %
Metaphyseal anadysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
100 %
Genes
100 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, PTH1R
Specificity
11 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %

You can get up to 33 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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