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Septopreoptic holoprosencephaly

MedGen UID:
1843386
Concept ID:
C5679777
Congenital Abnormality
Synonym: Septopreoptic HPE
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Orphanet: ORPHA280195

Definition

A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSeptopreoptic holoprosencephaly

Professional guidelines

PubMed

Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996

Recent clinical studies

Etiology

Pascoe HM, Fink AM, Kumbla S
Pediatr Radiol 2020 May;50(6):863-868. Epub 2020 Feb 26 doi: 10.1007/s00247-020-04634-z. PMID: 32103291

Diagnosis

Pascoe HM, Fink AM, Kumbla S
Pediatr Radiol 2020 May;50(6):863-868. Epub 2020 Feb 26 doi: 10.1007/s00247-020-04634-z. PMID: 32103291
Koob M, Weingertner AS, Gasser B, Oubel E, Dietemann JL
Pediatr Radiol 2012 Jul;42(7):886-90. Epub 2011 Oct 18 doi: 10.1007/s00247-011-2260-7. PMID: 22006531

Clinical prediction guides

Pascoe HM, Fink AM, Kumbla S
Pediatr Radiol 2020 May;50(6):863-868. Epub 2020 Feb 26 doi: 10.1007/s00247-020-04634-z. PMID: 32103291

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