Robinow Syndrome, Autosomal Recessive; Rrs
Description
Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000).
Clinical Features
Top most frequent phenotypes and symptoms related to Robinow Syndrome, Autosomal Recessive; Rrs
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
- Hypertelorism
- Micrognathia
- Abnormal facial shape
- Pain
- Cryptorchidism
And another 87 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including infantile onset .
Alternative names
Robinow Syndrome, Autosomal Recessive; Rrs Is also known as costovertebral segmentation defect with mesomelia, formerly, covesdem syndrome, formerly.
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.Robinow Syndrome, Autosomal Recessive; Rrs Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Abnormal/Ambiguous Genitalia Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
ROR2 sequencing.
By Genetic Services Laboratory University of Chicago (United States).
ROR2
Specificity
100 %
Genes
100 % |
Cornelia de Lange Syndrome PLUS Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
ROR2 deletion/duplication analysis.
By Genetic Services Laboratory University of Chicago (United States).
ROR2
Specificity
100 %
Genes
100 % |
Cornelia de Lange PLUS Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
ROR2 - Robinow syndrome, autosomal recessive.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
ROR2
Specificity
100 %
Genes
100 % |
ROR2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ROR2
Specificity
100 %
Genes
100 % |
ROR2. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ROR2
Specificity
100 %
Genes
100 % |
You can get up to 49 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SIFRIM-HITZ-WEISS SYNDROME; SIHIWES WAARDENBURG SYNDROME, TYPE 3; WS3 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K HOLOCARBOXYLASE SYNTHETASE DEFICIENCY GLYCOGEN STORAGE DISEASE II; GSD2