Acromesomelic Dysplasia, Maroteaux Type; Amdm

Description

The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

Clinical Features

Top most frequent phenotypes and symptoms related to Acromesomelic Dysplasia, Maroteaux Type; Amdm

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead
  • Skeletal dysplasia
  • Pes planus
  • Joint laxity
  • Falls
  • Short metacarpal

And another 24 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

Acromesomelic Dysplasia, Maroteaux Type; Amdm Is also known as st. helena 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Acromesomelic Dysplasia, Maroteaux Type; Amdm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene).

By CGC Genetics (Portugal).

NPR2
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 %
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
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive 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
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS 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
2 %
Genes
100 %
Acromesomelic Dysplasia, Maroteaux Type.

By Bioscientia GmbH Center for Human Genetics (Germany).

NPR2
Specificity
100 %
Genes
100 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH (Germany).

ROR2, TRPS1, WNT5A, IFT122, ADAMTSL2, DDR2, IFT140, WDR35, ZSWIM6, IFT43, FBN1, FGFR3, GDF5, GPC6, GSC, IHH, NPR2, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae (United States).

MED12, NSD1, CDKN1C, PHF6, SETD2, SPRED1, CUL4B, DIS3L2, DNMT3A, EZH2, AKT2, AKT3, GLI3, GPC3, KPTN, NF1, NFIX, NPR2, PIK3R2, PTEN
Specificity
5 %
Genes
100 %

We have 11 more panels available in our App

Get the app

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 THROMBOCYTOPENIA 1; THC1 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 VERTICAL TALUS, CONGENITAL; CVT HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more