{"orpha":280195,"name":"Septopreoptic holoprosencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Septopreoptic HPE"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280195/","orphanet_url":"https://www.orpha.net/en/disease/detail/280195","names":{"fr":{"name":"Holoprosencéphalie septo-préoptique","synonyms":["HPE septo-préoptique"],"definition":"Sous-type rare d'holoprosencéphalie caractérisé par une fusion médiane limitée aux régions septales et/ou préoptiques du télencéphale en l'absence de fusion néocorticale frontale significative. Les malformations craniofaciales de la ligne médiane sont généralement légères et comprennent une incisive maxillaire médiane solitaire et une sténose du sinus piriforme. Parmi les autres manifestations rapportées figurent un retard de langage, des difficultés d'apprentissage et des troubles du comportement. L'imagerie met en évidence un développement anormal du fornix, une absence ou une hypoplasie du corps calleux antérieur et une artère cérébrale antérieure unique."},"de":{"name":"Holoprosenzephalie, septopräoptische","synonyms":["HPE, septopräoptische"],"definition":"Ein seltener Subtyp der Holoprosenzephalie, bei dem die Mittellinienfusion auf die septalen und/oder präoptischen Regionen des Telenzephalons beschränkt ist, ohne dass eine signifikante frontale neokortikale Fusion vorliegt. Die kraniofazialen Mittellinienfehlbildungen sind im Allgemeinen mild und umfassen einen einzelnen oberen mittleren Schneidezahn und eine pyriforme Sinusstenose. Weitere berichtete Manifestationen sind Sprachverzögerungen, Lernschwierigkeiten und Verhaltensstörungen. Die Bildgebung zeigt einen abnormen Fornix, ein fehlendes oder hypoplasisches anteriores Corpus callosum und eine ungepaarte Arteria cerebri anterior."},"es":{"name":"Holoprosencefalia septopreóptica","synonyms":["HPE septopreóptica"],"definition":"Es un subtipo poco frecuente de holoprosencefalia caracterizado por una fusión de la línea media limitada a las regiones septal y/o preóptica del telencéfalo, sin fusión neocortical frontal significativa. Las malformaciones craneofaciales de la línea media son, por lo general, leves e incluyen el síndrome del incisivo central maxilar único y la estenosis del seno piriforme. Otras manifestaciones descritas incluyen retraso del lenguaje, dificultades de aprendizaje y trastornos de la conducta. Las pruebas de imagen revelan anomalías del fórnix, ausencia o hipoplasia del cuerpo calloso anterior y arteria cerebral anterior única."},"it":{"name":"Oloprosencefalia setto-preottica","synonyms":["HPE setto-preottica"],"definition":"Si tratta di un sottotipo raro di oloprosencefalia, caratterizzato dalla fusione della linea mediana limitatamente alle regioni settali e/o preottiche del telencefalo, in assenza di una significativa fusione neocorticale frontale. I dismorfismi craniofacciali della linea mediana di solito sono lievi, e comprendono un incisivo mascellare mediano solitario e la stenosi del seno piriforme. I pazienti possono presentare anche ritardo del linguaggio, difficoltà di apprendimento e disturbi comportamentali. Le neuroimmagini evidenziano anomalie del fornice, agenesia o ipoplasia del corpo calloso anteriore e una singola arteria cerebrale anteriore."},"nl":{"name":"Septopreoptische holoprosencefalie","synonyms":["Septopreoptische HPE"],"definition":"Een zeldzaam subtype van holoprosencefalie, gekarakteriseerd door fusie op de middellijn die zich beperkt tot septale en/of preoptische gebieden van het telencephalon zonder significante fusie van de frontale neocortex. Craniofaciale malformaties op de middellijn zijn doorgaans mild en omvatten solitaire mediane maxillaire snijtand en stenose van sinus piriformis. Overige gerapporteerde manifestaties zijn onder meer taalachterstand, leermoeilijkheden, en gedragsstoornissen. Beeldvorming toont abnormale fornix, afwezig of hypoplastisch anterieur corpus callosum, en ongepaarde arteria cerebri anterior."},"pt":{"name":"Holoprosencefalia septo-pre-optica","synonyms":["HPE septo-pre-optica"],"definition":"A holoprosencefalia septopreótica (HPE) é um subtipo muito raro de HPE lobar (ver este termo), caracterizado pela fusão mediana limitada às regiões septal e/ou pré-óptica do telencéfalo sem uma fusão frontal neocortical significativa."},"pl":{"name":"Holoprosencefalia przegrodowo-przedwzrokowa","synonyms":["HPE przegrodowo-przedwzrokowa HPE"]},"cs":{"name":"Septopreoptická holoprosencefalie","synonyms":["Septopreoptická HPE"]},"uk":{"name":"Септопреоптична голопрозенцефалія","synonyms":["Септопреоптичний HPE"],"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."},"zh":{"name":"视交叉前脑无裂畸形","synonyms":["视交叉HPE"],"definition":"视隔前脑无裂畸形（HPE）是一种非常罕见的大叶性HPE（见该词条）的亚型，其特征是局限于端脑间隔/或视前区的中线融合，无明显额叶新皮层融合。"},"tr":{"name":"Septopreoptik holoprozensefali","synonyms":["Septopreoptik HPE"]}},"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":"attributed","validated":true},{"source":"UMLS","code":"C5679777","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":"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"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-10","source":"20488907[PMID]_32103291[PMID]","terms":[{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007375","label":"Abnormality of the septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007330","label":"Frontoethmoidal encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001355","label":"Megalencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012650","label":"Perisylvian polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031913","label":"Rhombencephalosynapsis","frequency":"Occasional (29-5%)","criteria":null}]}}