Agnathia-holoprosencephaly-situs Inversus Syndrome

Description

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Clinical Features

Top most frequent phenotypes and symptoms related to Agnathia-holoprosencephaly-situs Inversus Syndrome

  • Respiratory distress
  • Agenesis of corpus callosum
  • Narrow mouth
  • Polyhydramnios
  • Low-set, posteriorly rotated ears
  • Abnormality of the eye
  • Hypoplasia of penis
  • Situs inversus totalis
  • Holoprosencephaly
  • Aplasia/Hypoplasia of the cerebellum

And another 9 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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Agnathia-holoprosencephaly-situs Inversus Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
50 %
OTX2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
50 %
OTX2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
50 %
OTX2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
50 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

OTX2
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HEMANGIOMA, CAPILLARY INFANTILE ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 CORNEAL DYSTROPHY, MEESMANN; MECD PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V

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