Robinow Syndrome, Autosomal Dominant 1; Drs1

Description

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Robinow Syndrome, Autosomal Dominant 1; Drs1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Low-set ears
  • High palate
  • Depressed nasal bridge

And another 83 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

Robinow Syndrome, Autosomal Dominant 1; Drs1 Is also known as robinow dwarfism, acral dysostosis with facial and genital abnormalities, fetal face syndrome.

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 Dominant 1; Drs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
WNT5A sequencing.

By Genetic Services Laboratory University of Chicago (United States).

WNT5A
Specificity
100 %
Genes
100 %
WNT5A deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

WNT5A
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 %
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 %
WNT5A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

WNT5A
Specificity
100 %
Genes
100 %
Robinow syndrome (sequence analysis of WNT5A gene).

By CGC Genetics (Portugal).

WNT5A
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %

You can get up to 25 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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