Auriculocondylar Syndrome 1; Arcnd1

Description

Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008). Genetic Heterogeneity of Auriculocondylar SyndromeAuriculocondylar syndrome-2 (ARCND2 ) is caused by mutation in the PLCB4 gene (OMIM ) on chromosome 20p12.3-p12.2. ARCND3 (OMIM ) is caused by mutation in the EDN1 gene (OMIM ) on chromosome 6p24.See also {612798} for isolated question mark ears.

Genes related to Auriculocondylar Syndrome 1; Arcnd1

GNAI3
EDN1
PLCB4

Clinical Features

Top most frequent phenotypes and symptoms related to Auriculocondylar Syndrome 1; Arcnd1

Pica
Hearing impairment
Micrognathia
Sensorineural hearing impairment
Ptosis
Cleft palate
Low-set ears
Downslanted palpebral fissures
Macrocephaly
Respiratory distress

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Auriculocondylar Syndrome 1; Arcnd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Auricularcondylar Syndrome 1 - GNAI3 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. GNAI3 Specificity 100 % Genes 34 %
Auriculocondylar syndrome type 1 (sequence analysis of GNAI3 gene). By CGC Genetics in Portugal. GNAI3 Specificity 100 % Genes 34 %
Auriculocondylar syndrome type 1 (sequence analysis of GNAI3 gene). By CGC Genetics in Portugal. GNAI3 Specificity 100 % Genes 34 %
Auriculocondylar syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. GNAI3 Specificity 100 % Genes 34 %
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 Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB Specificity 3 % Genes 100 %
GNAI3. By Fulgent Genetics Fulgent Genetics in United States. GNAI3 Specificity 100 % Genes 34 %
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 Panel GTR000553455 complete gene list RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4 Specificity 5 % Genes 67 %
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 Panel GTR000553472 complete gene list RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4 Specificity 5 % Genes 67 %
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 Panel GTR000553492 complete gene list RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4 Specificity 5 % Genes 67 %
EDN1. By Fulgent Genetics Fulgent Genetics in United States. EDN1 Specificity 100 % Genes 34 %
Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene). By CGC Genetics in Portugal. PLCB4 Specificity 100 % Genes 34 %
Auriculocondylar syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. PLCB4 Specificity 100 % Genes 34 %
Auriculocondylar syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. PLCB4 Specificity 100 % Genes 34 %
PLCB4. By Fulgent Genetics Fulgent Genetics in United States. PLCB4 Specificity 100 % Genes 34 %

Alternate names

Auriculocondylar Syndrome 1; Arcnd1 Is also known as question mark ears syndrome;question mark ear syndrome.

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