Acro-renal-ocular Syndrome

Description

Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Clinical Features

Top most frequent phenotypes and symptoms related to Acro-renal-ocular Syndrome

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract
  • Ptosis
  • Visual impairment
  • Epicanthus
  • Microphthalmia
  • Conductive hearing impairment

And another 34 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.

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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Acro-renal-ocular Syndrome 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 , (...)

View the complete list with 100 more genes
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 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %

We have 43 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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