Robinow Syndrome, Autosomal Dominant 3; Drs3

Description

The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Robinow Syndrome, Autosomal Dominant 3; Drs3

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus

And another 32 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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Robinow Syndrome, Autosomal Dominant 3; Drs3 Recommended genes panels

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

By Connective Tissue Gene Tests (United States).

ROR2, WNT5A, DVL1, DVL3
Specificity
25 %
Genes
100 %
Robinow syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ROR2, WNT5A, NXN, DVL1, DVL3, FZD2
Specificity
17 %
Genes
100 %
Robinow syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ROR2, WNT5A, NXN, DVL1, DVL3, FZD2
Specificity
17 %
Genes
100 %
DVL3.

By Fulgent Genetics Fulgent Genetics (United States).

DVL3
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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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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