The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).
And another 42 symptoms. If you need more information about this disease we can help you.
Panel Name, Specifity and genes Tested/covered |
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![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
![]() By GeneDx (United States).
POR
Specificity
100 %
Genes
100 % |
You can check the following sources for additional information.
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