{"orpha":63259,"name":"Iniencephaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neural tube defect characterized by an abnormally short neck, with extreme retroflexion of the head and upward turned face resulting from involvement of the occiput and the inion, which are variably combined with rachischisis of the upper cervical and thoracic spine, leading to the incomplete closure of the vertebral arches and/or even their absence. Patients frequently present with malformations of the central nervous system (spina bifida and/or anencephaly), marked lordosis, and appear to have no neck as the skin of the head is continuous with the chest and the back.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63259/","orphanet_url":"https://www.orpha.net/en/disease/detail/63259","names":{"fr":{"name":"Iniencéphalie","definition":"Anomalie rare du tube neural caractérisée par un cou anormalement court, une rétroflexion extrême de la tête et un visage tourné vers le haut, résultant d'une atteinte de l'occiput et de l'inion, s'accompagnant, à des degrés divers, d'une rachischisis des vertèbres cervicales supérieures et thoraciques, entraînant une fermeture incomplète des arcs vertébraux, voire, dans certains cas, leur absence. Les patients présentent souvent des malformations du système nerveux central (spina bifida et/ou anencéphalie), une lordose marquée, et semblent ne pas avoir de cou, la peau du crâne se prolongeant sans interruption jusqu'à la poitrine et le dos."},"de":{"name":"Inienzephalie","definition":"Die Inienzephalie ist ein seltener Neuralrohrdefekt, bei dem eine Fehlbildung des zerviko-okzipitalen Überganges mit einer Fehlbildung des Zentralnervensystems assoziiert ist."},"es":{"name":"Iniencefalia","definition":"La iniencefalia es una forma rara de anomalía del tubo neural, en la que se asocian una malformación de la unión cervico-occipital y una malformación del sistema nervioso central."},"it":{"name":"Iniencefalia"},"nl":{"name":"Iniëncefalie","definition":"Een zeldzame vorm van neuralebuisdefect, waarbij een malformatie van cervico-occipitale overgang geassocieerd is met een malformatie van centraal zenuwstelsel."},"pt":{"name":"Iniencefalia","definition":"A iniencefalia é uma forma rara de defeito do tubo neural em que uma malformação da junção cervico-ocipital está associada a uma malformação do sistema nervoso central."},"pl":{"name":"Iniencefalia"},"cs":{"name":"Iniencefalie"},"uk":{"name":"Ініенцефалія","definition":"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system."},"zh":{"name":"枕骨裂脑露畸形"},"tr":{"name":"İniensefali"}},"xrefs":[{"source":"ICD-10","code":"Q00.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA00.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1558931335"},{"source":"MONDO","code":"0018968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152234","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10506","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10022034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[{"orpha":268366,"name":"Closed iniencephaly","type":"Clinical subtype"},{"orpha":268363,"name":"Open iniencephaly","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008465","label":"Absent vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009939","label":"Mandibular aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012294","label":"Abnormality of the occipital bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}