Autosomal Dominant Robinow Syndrome

Description

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Robinow Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Cryptorchidism
  • Ptosis

And another 70 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.

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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Autosomal Dominant Robinow Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Robinow syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ROR2, WNT5A, NXN, DVL1, DVL3, FZD2
Specificity
67 %
Genes
100 %
Omodysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

FZD2, GPC6
Specificity
50 %
Genes
25 %
Omodysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

FZD2, GPC6
Specificity
50 %
Genes
25 %
Robinow syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ROR2, WNT5A, NXN, DVL1, DVL3, FZD2
Specificity
67 %
Genes
100 %
Omodysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

FZD2, GPC6
Specificity
50 %
Genes
25 %
FZD2.

By Fulgent Genetics Fulgent Genetics (United States).

FZD2
Specificity
100 %
Genes
25 %
Robinow syndrome (sequence analysis of DVL1 gene).

By CGC Genetics (Portugal).

DVL1
Specificity
100 %
Genes
25 %
Robinow syndrome (sequence analysis of DVL1 gene).

By CGC Genetics (Portugal).

DVL1
Specificity
100 %
Genes
25 %

We have 35 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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