Acrofacial Dysostosis Syndrome Of Rodriguez

Description

or shortly after birth.

Clinical Features

Top most frequent phenotypes and symptoms related to Acrofacial Dysostosis Syndrome Of Rodriguez

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Wide nasal bridge
  • Talipes equinovarus
  • Malar flattening
  • Abnormality of cardiovascular system morphology
  • Posteriorly rotated ears
And another 30 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.


Mendelian

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Acrofacial Dysostosis Syndrome Of Rodriguez Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DHODH, CHD7, PRKAR1A, POLR1C, TCOF1, POLR1D, ALX4, EFNB1, EFTUD2, EVC, EVC2, MYCN, ALX1, PDE4D, ALX3, ZSWIM6, SF3B4
Specificity
6 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Acrofacial dysostosis 1, Nager type (sequence analysis of SF3B4 gene).

By CGC Genetics in Portugal.

SF3B4
Specificity
100 %
Genes
100 %
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DHODH, POLR1C, TCOF1, POLR1D, EFTUD2, SF3B4
Specificity
17 %
Genes
100 %
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SF3B4
Specificity
100 %
Genes
100 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DHODH, FGFR3, CREBBP, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, FGFR1, POLR1C, TCOF1, POLR1D, TWIST1, EP300, EFTUD2, SRCAP, TCF12, SF3B4
Specificity
6 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Treacher Collins syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DHODH, POLR1C, EDNRA, TCOF1, POLR1D, EFTUD2, SF3B4, POLR1A, TXNL4A
Specificity
12 %
Genes
100 %
Treacher Collins syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DHODH, POLR1C, EDNRA, TCOF1, POLR1D, EFTUD2, SF3B4, POLR1A, TXNL4A
Specificity
12 %
Genes
100 %
Treacher Collins syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DHODH, POLR1C, EDNRA, TCOF1, POLR1D, EFTUD2, SF3B4, POLR1A, TXNL4A
Specificity
12 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Acrofacial dysostosis 1, Nager type.

By Centogene AG - the Rare Disease Company in Germany.

SF3B4
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Nager syndrome: SF3B4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SF3B4
Specificity
100 %
Genes
100 %
SF3B4.

By Fulgent Genetics Fulgent Genetics in United States.

SF3B4
Specificity
100 %
Genes
100 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
NAGER SYNDROME (NAGER ACROFACIAL DYSOSTOSIS).

By Laboratorio de Genetica Clinica SL in Spain.

SF3B4
Specificity
100 %
Genes
100 %
Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

DHODH, CHD7, POLR1C, TCOF1, POLR1D, EFTUD2, EVC, MYCN, SF3B4, MIR17HG
Specificity
10 %
Genes
100 %

Alternate names

Acrofacial Dysostosis Syndrome Of Rodriguez Is also known as rodriguez lethal acrofacial dysostosis syndrome;.


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