{"orpha":2145,"name":"Craniosynostosis, Herrmann-Opitz type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2145/","orphanet_url":"https://www.orpha.net/en/disease/detail/2145","names":{"fr":{"name":"Craniosynostose de Herrmann-Opitz","definition":"La craniosynostose de Herrmann-Opitz est un trouble rare du développement osseux caractérisé par un déficit intellectuel, une petite taille, une turribrachycéphalie, une dysmorphie faciale (hypertélorisme sévère, hypoplasie des crêtes supra-orbitaires, oreilles anormales, micrognathie), des anomalies osseuses de l'occiput et des anomalies digitales (dont une syndactylie, une oligodactylie et/ou une brachydactylie). Une atrésie de l'urètre a aussi été rapportée. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1987."},"de":{"name":"Kraniosynostose Typ Herrmann-Opitz","synonyms":["Herrmann-Opitz Kraniosynostose"],"definition":"Die Herrmann-Opitz Kraniosynostose ist eine seltene Störung der Knochenentwicklung charakterisiert durch Intelligenzminderung, Kleinwuchs, Turribrachyzephalie, faziale Dysmorphien (i.e. Hypertelorismus, Hypoplasie der Stirnwülste, abnormale Ohren, Mikrognathie), knöcherne Defekte des Hinterkopfes sowie Anomalien der Finger (einschließlich Syndaktylie, Oligodaktylie und/oder Brachydaktylie). Auch Atresien der Harnröhre wurden berichtet. Seit 1987 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Craneosinostosis tipo Herrmann-Opitz","synonyms":["Craneosinostosis de Herrmann-Opitz"],"definition":"La craneosinostosis tipo Herrmann-Opitz es un trastorno poco frecuente del desarrollo óseo caracterizado por discapacidad intelectual, talla baja, turribraquicefalia, dismorfia facial (es decir, hipertelorismo grave, hipoplasia de las crestas supraorbitales, orejas anómalas y micrognatia), defectos óseos del occipucio y anomalías digitales (incluyendo sindactilia, oligodactilia y/o braquidactilia). También se ha descrito la presencia de atresia uretral. No se han descrito nuevos casos en la literatura desde 1987."},"it":{"name":"Craniosinostosi di Herrmann-Opitz","definition":"La craniosinostosi di Herrmann-Opitz è una malattia rara dello sviluppo osseo, caratterizzata da disabilità intellettiva, bassa statura, turribrachicefalia, dismorfismi facciali (ipertelorismo grave, ipoplasia delle arcate sopraorbitali, anomalie dell'orecchio e micrognatia), difetti ossei dell'occipite e anomalie delle dita (sindattilia, oligodattilia e/o brachidattilia). Sono stati descritti casi di atresia uretrale. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Craniosynostose, Herrmann-Opitz-type","definition":"Craniosynostose, Herrmann-Opitz-type is een zeldzame aandoening van de botontwikkeling die wordt gekarakteriseerd door intellectuele beperkingen, kleine gestalte, turribrachycefalie, faciale dysmorfie (i.e. ernstig hypertelorisme, hypoplasie van de supraorbitale randen, abnormale oren, en micrognathie), botdefecten aan het occiput, en afwijkingen aan vingers en tenen (incl. syndactylie, oligodactylie, en/of brachydactylie). Urethrale atresie werd ook gerapporteerd. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Craniossinostose, tipo Herrmann-Opitz","synonyms":["Craniossinostose de Herrmann-Opitz"]},"pl":{"name":"Kraniosynostoza typu Herrmanna i Opitza"},"cs":{"name":"Kraniosynostóza, Herrmannův-Opitzův typ","synonyms":["Kraniosynostóza, Herrmann-Opitzův typ"]},"uk":{"name":"Краніосиностоз, тип Германна-Опітца","definition":"Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987."},"zh":{"name":"颅缝早闭，Herrmann-Opitz型"},"tr":{"name":"Kraniyosinostoz, Herrmann-Opitz tipi"}},"xrefs":[{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048918601"},{"source":"MONDO","code":"0016291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706536","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3300335[PMID]_5783388[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3300335[PMID]_5783388[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null}]}}