{"orpha":93924,"name":"Lobar holoprosencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93924/","orphanet_url":"https://www.orpha.net/en/disease/detail/93924","names":{"fr":{"name":"Holoprosencéphalie lobaire","definition":"Forme d'holoprosencéphalie caractérisée par la séparation des hémisphères cérébraux droit et gauche et des ventricules latéraux, principalement antérieure et ventrale, avec continuité du néocortex frontal sur la ligne médiane. Des malformations craniofaciales sont variables et peuvent inclure, entre autres : hypotélorisme oculaire, fente labiale médiane (complète ou partielle) et/ou nez plat."},"de":{"name":"Holoprosenzephalie, lobäre","definition":"Eine Form der Holoprosenzephalie, die durch eine Trennung der rechten und linken Gehirnhälfte und der lateralen Ventrikel gekennzeichnet ist, wobei nur im Bereich der frontalen Neocortex, insbesondere rostral und ventral, eine gewisse Kontinuität besteht. Die kraniofazialen Merkmale sind variabel und können unter anderem Augenhypotelorie, eine Mittellippenspalte (vollständig oder teilweise) und/oder eine flache Nase umfassen."},"es":{"name":"Holoprosencefalia lobar","definition":"Es una forma de holoprosencefalia caracterizada por la separación de los hemisferios cerebrales derecho e izquierdo y de los ventrículos laterales, con cierta continuidad sólo en el neocórtex frontal, especialmente a nivel frontal y ventral. Los rasgos craneofaciales son variables y pueden incluir hipotelorismo ocular, labio leporino en la línea media (completo o parcial) y/o nariz plana, entre otros."},"it":{"name":"Oloprosencefalia lobare","definition":"L'oloprosencefalia lobare è la forma classica più lieve dell'oloprosencefalia (HPE; si veda questo termine). È caratterizzata dalla separazione tra gli emisferi cerebrali destro e sinistro e i ventricoli laterali mediante un raccordo lungo la neocorteccia frontale, in particolare rostralmente e ventralmente."},"nl":{"name":"Lobaire holoprosencefalie","definition":"Een vorm van holoprosencefalie, gekenmerkt door scheiding van linker en rechter hersenhelft en laterale ventrikels met enige continuïteit enkel doorheen de frontale neocortex, vooral rostraal en ventraal. Craniofaciale kenmerken zijn variabel, en omvatten onder meer oculair hypotelorisme, mediaan gespleten lip (volledig of gedeeltelijk), en/of platte neus."},"pt":{"name":"Holoprosencefalia lobar","definition":"A holoprosencefalia lobar é a forma clássica mais ligeira de holoprosencefalia (HPE, ver este termo), caracterizada pela separação dos hemisférios cerebrais direito e esquerdo e ventrículos laterais com alguma continuidade em todo o neocórtex frontal, especialmente rostralmente e ventralmente."},"pl":{"name":"Holoprozencefalia lobarna"},"cs":{"name":"Lobární holoprosencefalie"},"uk":{"name":"Лобарна голопрозенцефалія","definition":"A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features."},"zh":{"name":"脑叶性前脑无裂畸形","definition":"叶状型前脑无裂畸形是前脑无裂畸形（HPE；见该词条）中表型最轻的一种经典类型，其特征是左右大脑半球完全分离，左右侧脑室完全分离，只有额叶新皮质处（尤其是头侧和腹侧）有一定的连续性。"},"tr":{"name":"Lober holoprozensefali"}},"xrefs":[{"source":"OMIM","code":"157170","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609637","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610829","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"121649206"},{"source":"MONDO","code":"0019756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2162,"name":"Holoprosencephaly","classifications":[147,156,181,193]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"27363716[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"CDON","name":"cell adhesion associated, oncogene regulated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17104","ensembl":"ENSG00000064309","omim":"608707","loci":["11q24.2"]},{"symbol":"CRIPTO","name":"cripto, EGF-CFC family member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11701","ensembl":"ENSG00000241186","omim":"187395","loci":["3p21.31"]},{"symbol":"DISP1","name":"dispatched RND transporter family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19711","ensembl":"ENSG00000154309","omim":"607502","loci":["1q41"]},{"symbol":"DLL1","name":"delta like canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2908","ensembl":"ENSG00000198719","omim":"606582","loci":["6q27"]},{"symbol":"FGF8","name":"fibroblast growth factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3686","ensembl":"ENSG00000107831","omim":"600483","loci":["10q24.32"]},{"symbol":"FOXH1","name":"forkhead box H1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3814","ensembl":"ENSG00000160973","omim":"603621","loci":["8q24.3"]},{"symbol":"GAS1","name":"growth arrest specific 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4165","ensembl":"ENSG00000180447","omim":"139185","loci":["9q21.33"]},{"symbol":"GLI2","name":"GLI family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4318","ensembl":"ENSG00000074047","omim":"165230","loci":["2q14.2"]},{"symbol":"NODAL","name":"nodal growth differentiation factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7865","ensembl":"ENSG00000156574","omim":"601265","loci":["10q22.1"]},{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]},{"symbol":"SIX3","name":"SIX homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10889","ensembl":"ENSG00000138083","omim":"603714","loci":["2p21"]},{"symbol":"STIL","name":"STIL centriolar assembly protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29785796[PMID]","hgnc":"10879","ensembl":"ENSG00000123473","omim":"181590","loci":["1p33"]},{"symbol":"TGIF1","name":"TGFB induced factor homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11776","ensembl":"ENSG00000177426","omim":"602630","loci":["18p11.31"]},{"symbol":"ZIC2","name":"Zic family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12873","ensembl":"ENSG00000043355","omim":"603073","loci":["13q32.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-09","source":"30182446[PMID]_20301702[PMID]_30182444[PMID]","terms":[{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012285","label":"Abnormal hypothalamus physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031860","label":"Abnormal heart rate variability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040327","label":"Abnormal morphology of the olfactory bulb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010654","label":"Aplasia of the falx cerebri","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007301","label":"Oromotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045005","label":"Neural tube defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012806","label":"Proboscis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009932","label":"Single naris","frequency":"Very rare (<4-1%)","criteria":null}]}}