Acromesomelic Dysplasia, Hunter-thompson Type; Amdh

Description

The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).

Clinical Features

Top most frequent phenotypes and symptoms related to Acromesomelic Dysplasia, Hunter-thompson Type; Amdh

  • Short stature
  • Abnormality of the skeletal system
  • Severe short stature
  • Scarring
  • Corneal opacity
  • Hip dislocation
  • Short foot
  • Single transverse palmar crease
  • Limb undergrowth
  • Short thumb

And another 16 symptoms. If you need more information about this disease we can help you.

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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, Hunter-thompson Type; Amdh Is also known as acromesomelic dwarfism.

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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Acromesomelic Dysplasia, Hunter-thompson Type; Amdh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GDF5. Complete sequencing.

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GDF5
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100 %
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Chondrodysplasia, Grebe type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

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Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

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Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

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Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

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Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

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GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection.

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GDF5
Specificity
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Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

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

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Specificity
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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