Auriculocondylar Syndrome 2; Arcnd2

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 ).

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.


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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
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
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
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
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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