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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Syntelencephaly #7032

Closed patt1morgan closed 2 years ago

patt1morgan commented 3 years ago

Preferred term label: Syntelencephaly

Synonyms Middle Interhemispheric Variant of Holoprosencephaly, MIH, midline interhemispheric fusion, MIF

Definition (free text, please give PubMed ID) Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. PMID: 11827888

Comment this condition differs from HPE in that the midline "fusion" in syntelencephaly is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior "fusion." PMID: 8989462 Parent term (use hpo.jax.org/app)** Holoprosencephaly HP:0001360

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Mutations involving the ZIC2 gene, located on human chromosome 13q32, has been postulated in the pathogenesis of HPE and syntelencephaly. PMID: 26557166 Your nano-attribution (ORCID)

patt1morgan commented 3 years ago

@yuval-yaron, @suz13. Thank you for agreeing to work with us to advance the perinatal section of the HPO. We would appreciate it if you could review this new term request and approve it as it is, or help us improve it. Any suggestions welcome!

Suz13 commented 3 years ago

Agree relevant prenatal term. Agree parent term holoprosencephaly. Prenatal phenotype reported in this abstract https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.15498 and prenatal case series in PMID:33455493. ZIC2 also associated in PMID:29442327

yuval-yaron commented 3 years ago

Agree relevant term for prenatal diagnosis.

pnrobinson commented 2 years ago

added term (add annotations)

pnrobinson commented 2 years ago

added term, will add annotations.