Agnathia-holoprosencephaly-situs inversus syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000171 Microglossia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000478 Abnormality of the eye Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001291 Abnormal cranial nerve morphology Very frequent (99-80%)
HP:0001360 Holoprosencephaly Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001696 Situs inversus totalis Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0009914 Cyclopia Very frequent (99-80%)
HP:0009924 Aplasia/Hypoplasia involving the nose Very frequent (99-80%)
HP:0009939 Mandibular aplasia Very frequent (99-80%)
HP:0011386 Narrow internal auditory canal Very frequent (99-80%)
HP:0100596 Absent nares Very frequent (99-80%)
HP:0100663 Synotia Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
OTX2 orthodenticle homeobox 2 5015
PRRX1 paired related homeobox 1 5396