Robinow Syndrome, Autosomal Dominant 2; Drs2

Description

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn 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 2; Drs2

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge

And another 43 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 2; Drs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Robinow syndrome (sequence analysis of DVL1 gene).

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

DVL1
Specificity
100 %
Genes
100 %
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 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center (Germany).

BMPR1B, BMPR2, TBX4, CAV1, CAV3, NME8, ACVRL1, SARS2, CCNO, DNAI2, CFTR, EIF2AK4, DNAAF2, RSPH9, DNAAF4, RSPH4A, COL4A1, COL4A2, DNAH11, DNAH5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 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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