Research Evidence
Peer-reviewed studies linked via MeSH term "Holoprosencephalies" from the MEDLINE/PubMed database.
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Molecular testing in holoprosencephaly.
[object Object], [object Object], [object Object] · Am J Med Genet C Semin Med Genet · 2018
Syndromes associated with holoprosencephaly.
[object Object], [object Object] · Am J Med Genet C Semin Med Genet · 2018
Comparing Repeatability and Agreement between Commonly Used Corneal Imaging Devices in Keratoconus.
[object Object], [object Object], [object Object] et al. · Optom Vis Sci · 2023
PMID: 37890110RCT
Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.
[object Object], [object Object], [object Object] et al. · Jpn J Radiol · 2025
PMID: 39259418Review
Malformation Pattern and Molecular Findings in the-Related Hartsfield Syndrome Phenotype.
[object Object], [object Object] · Med Sci (Basel) · 2025
Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists.
[object Object], [object Object], [object Object] et al. · Pediatr Neurol · 2025
PMID: 39577233Review
Evolution in the clinic: Maladaptive units and "minor anomalies".
[object Object], [object Object] · Am J Med Genet A · 2023
PMID: 36331276Review
Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties.
[object Object], [object Object], [object Object] et al. · J Matern Fetal Neonatal Med · 2022
PMID: 35272544Review
Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series.
[object Object], [object Object], [object Object] et al. · J Matern Fetal Neonatal Med · 2022
PMID: 33455493Review
Rhomboencephalosynapsis: Review of the Literature.
[object Object], [object Object], [object Object] · World Neurosurg · 2022
PMID: 34954057Review
Search all PubMed articles for Holoprosencephaly sequence
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Bilateral cleft lip
Very frequent (80-99%)HP:0100336
Central cleft palate
Very frequent (80-99%)HP:0009099
Malformation of face
Very frequent (80-99%)HP:0001999
Midline cleft lip
Very frequent (80-99%)HP:0000161
Single brain ventricle
Very frequent (80-99%)HP:0001360
Single median incisor
Very frequent (80-99%)HP:0006315
Abnormally small eyeball
Frequent (30-79%)HP:0000568
Absence of eyeballs
Frequent (30-79%)HP:0000528
Choanal atresia
Frequent (30-79%)HP:0000453
Cognitive deficits
Frequent (30-79%)HP:0100543
Cyclopia
Frequent (30-79%)HP:0009914
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dental agenesis
Frequent (30-79%)HP:0009804
Diabetes mellitus
Frequent (30-79%)HP:0000819
Dystonic movements
Frequent (30-79%)HP:0001332
Epilepsy
Frequent (30-79%)HP:0001250
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Iris coloboma
Frequent (30-79%)HP:0000612
Lost smell
Frequent (30-79%)HP:0000458
Low blood sugar
Frequent (30-79%)HP:0001943
Muscle weakness
Frequent (30-79%)HP:0001324
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Retruded nasal dorsum
Frequent (30-79%)HP:0000457
Sense of smell impaired
Frequent (30-79%)HP:0004409
Abnormal antihelix morphology
Occasional (5-29%)HP:0009738
Related Conditions
Lobar holoprosencephaly(child)
Alobar holoprosencephaly(child)
Semi-lobar holoprosencephaly(child)
Kundrat's syndrome(child)
Cebocephaly(child)
Holoprosencephaly craniosynostosis syndrome(child)
Holoprosencephaly and postaxial polydactyly syndrome(child)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome(child)
Steinfeld syndrome(child)
Agnathia, holoprosencephaly, situs inversus syndrome(child)
Ethmocephalus(child)
Hartsfield syndrome(child)
Holoprosencephaly with caudal dysgenesis syndrome(child)
Syntelencephaly(child)
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis(child)
Holoprosencephaly minor form(child)
Pancreatic agenesis, holoprosencephaly syndrome(child)
Malformation sequence(parent)
Congenital anomaly of head(parent)
Quick Facts
- SNOMED CT
- 30915001
- UMLS CUI
- C0079541
- Fully Specified Name
- Holoprosencephaly sequence (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.