Agnathia-otocephaly Complex; Agotc

Description

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Agnathia-otocephaly Complex; Agotc

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Abnormal facial shape
  • Low-set ears
  • Downslanted palpebral fissures
  • Talipes equinovarus
  • Atrial septal defect
  • Respiratory distress
  • Agenesis of corpus callosum
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.


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Agnathia-otocephaly Complex; Agotc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

OTX2, PRRX1
Specificity
50 %
Genes
100 %
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRRX1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
PRRX1.

By Fulgent Genetics Fulgent Genetics in United States.

PRRX1
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Agnathia-otocephaly Complex; Agotc Is also known as dysgnathia complex agnathia-holoprosencephaly, holoprosencephaly-agnathia, otocephaly;second branchial cleft cyst; second branchial cleft fistula.



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