Auriculocondylar Syndrome 2; Arcnd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Genes related to Auriculocondylar Syndrome 2; Arcnd2

PLCB4

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Clinical Features

Top most frequent phenotypes and symptoms related to Auriculocondylar Syndrome 2; Arcnd2

Global developmental delay
Generalized hypotonia
Hearing impairment
Micrognathia
Cleft palate
Low-set ears
Feeding difficulties
Macrocephaly
Respiratory distress
Posteriorly rotated ears

And another 28 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.

Auriculocondylar Syndrome 2; Arcnd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofacial Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...) View the complete list with 22 more genes Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 Specificity 3 % Genes 100 %
Craniofacial Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...) View the complete list with 22 more genes Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 Specificity 3 % Genes 100 %
Craniofacial Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...) View the complete list with 22 more genes Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 Specificity 3 % Genes 100 %
Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene). By CGC Genetics (Portugal). PLCB4 Specificity 100 % Genes 100 %
Auriculocondylar syndrome type 2. By Centogene AG - the Rare Disease Company (Germany). PLCB4 Specificity 100 % Genes 100 %
Auriculocondylar syndrome type 2. By Centogene AG - the Rare Disease Company (Germany). PLCB4 Specificity 100 % Genes 100 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL (Spain). RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...) View the complete list with 114 more genes Panel complete gene list RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, MED12, TWIST1, UBB, SUMO1, KDM6A, VAX1, ZIC2, IFT122, WNT10A, NSD1, RAB23, EDARADD, ZEB2, ALX1, SALL4, TP63, CDON, CDC45, KAT6B, PORCN, CDSN, WDR19, EIF4A3, NAA10, ADAMTSL4, DISP1, POLR1C, SMOC2, POLR1D, CHD7, BCOR, ANKRD11, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, SMC3, FAM83H, CTSK, OFD1, GRHL3, ODAPH, WDR72, DHODH, NIPBL, EDAR, SPECC1L, KDM1A, DLX3, DLX4, WDR35, IFT43, DSPP, EFTUD2, EDA, EFNB1, MEGF8, ENAM, ERF, EYA1, EZH2, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FOXC1, FOXE1, GDF3, GDF6, GJA1, GJB6, GLI2, GLI3, GNAI3, ALX3, ALX4, AMELX, HOXA2, IKBKG, IL11RA, IRF6, KLK4, LRP2, LRP6, LTBP3, MASP1, MEOX1, MID1, MITF, KMT2D, MMP20, MSX1, MSX2, NFKBIA, NOG, OTX2, PAX3, PAX6, PAX7, PAX9, PITX2, AXIN2, PLCB4, PTCH1, PTH1R, NECTIN1, RAD21, RECQL4 Specificity 1 % Genes 100 %
PLCB4. By Fulgent Genetics Fulgent Genetics (United States). PLCB4 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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