Autosomal Dominant Robinow Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Autosomal Dominant Robinow Syndrome

FZD2
DVL1
WNT5A
DVL3

View recommended genes panels

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.

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.

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.

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 %

You can get up to 35 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 GLYCOGEN STORAGE DISEASE X; GSD10 ABETALIPOPROTEINEMIA; ABL EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA MEND SYNDROME; MEND AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1