Duane-radial Ray Syndrome; Drrs

Description

Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Duane-radial Ray Syndrome; Drrs

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract
  • Ptosis
  • Epicanthus
  • Ventricular septal defect
  • Talipes equinovarus

And another 60 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.
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Duane-radial Ray Syndrome; Drrs Is also known as dr syndrome, acrorenoocular syndrome, duane anomaly with radial ray abnormalities and deafness, okihiro 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.


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Duane-radial Ray Syndrome; Drrs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SALL4-Related Disorders - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SALL4
Specificity
100 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

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Specificity
1 %
Genes
100 %
SALL4. Complete sequencing.

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

SALL4
Specificity
100 %
Genes
100 %
Duane-radial ray syndrome (deletion/duplication analysis on SALL4 gene).

By CGC Genetics (Portugal).

SALL4
Specificity
100 %
Genes
100 %
Duane retraction syndrome (sequence analysis of SALL4 gene).

By CGC Genetics (Portugal).

SALL4
Specificity
100 %
Genes
100 %
Duane-radial ray syndrome.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique (Belgium).

SALL4
Specificity
100 %
Genes
100 %
SALL4-Related Disorders.

By Exeter Molecular Genetics Laboratory (United Kingdom).

SALL4
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

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Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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