{"orpha":3034,"name":"Delayed membranous cranial ossification","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gonzales-del Angel syndrome"],"definition":"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3034/","orphanet_url":"https://www.orpha.net/en/disease/detail/3034","names":{"fr":{"name":"Retard d'ossification du crâne membraneux","synonyms":["Syndrome de Gonzales-del Angel"],"definition":"Une dysplasie génétique osseuse primaire et rare, caractérisée par une absence d'ossification des os de la calvaria à la naissance, associée à une dysmorphie faciale caractéristique (bosse frontale, hypertélorisme, fentes palpébrales obliques en bas et en dehors, proptosis, pont nasal plat, oreilles implantées basses, rétrusion de l'étage moyen du visage). A la naissance, les patients présentent un crâne mou qui s'ossifie progressivement avec le temps, donnant l'apparence d'un crâne déformé à l'âge adulte (avec une brachycéphalie et un occiput proéminent). Il n'y a pas d'autre anomalie squelettique associée et les patients présentent un développement moteur et cognitif normal."},"de":{"name":"Ossifikationsverzögerung des Schädels, membranöse","synonyms":["Gonzales-del-Angel-Syndrom"],"definition":"Eine seltene, genetisch bedingte primäre Knochendysplasie, die durch eine fehlende Verknöcherung der Schädelknochen bei der Geburt und charakteristische Gesichtsdysmorphien gekennzeichnet ist (Stirnbuckel, Hypertelorismus, nach unten verlaufende Lidspalten, Proptosis, flacher Nasenrücken, tief angesetzte Ohren, Retrusion des Mittelgesichts). Die Patienten weisen bei der Geburt einen weichen Schädel auf, der im Laufe der Zeit progressiv verknöchert und im Erwachsenenalter typischerweise zu einem deformierten Schädel führt (mit Brachyzephalie und prominentem Hinterhaupt). Es sind keine weiteren Skelettanomalien assoziiert und die Patienten haben eine normale kognitive und motorische Entwicklung."},"es":{"name":"Retraso de la osificación craneal membranosa","synonyms":["Síndrome de Gonzales-del Ángel"],"definition":"El retraso de la osificación cráneal membranosa es una displasia ósea primaria genética poco frecuente, caracterizada por la ausencia de osificación en los huesos de la bóveda craneal al nacer y características faciales dismórficas (protuberancia frontal, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, proptosis, puente nasal plano, orejas de implantación baja, retrusión mediofacial). Los afectados presentan un cráneo blando al nacer que, con el tiempo, se osifica progresivamente y en la edad adulta suele resultar en un cráneo deformado (con braquicefalia y occipucio prominente). No se asocian otras anomalías esqueléticas y los afectados tienen un desarrollo cognitivo y motor normal."},"it":{"name":"Ritardo di ossificazione del cranio membranoso","synonyms":["Sindrome di Gonzales-del Angel"],"definition":"Il ritardo di ossificazione del cranio membranoso è una displasia scheletrica primitiva genetica rara, caratterizzata dalla mancata ossificazione delle ossa della volta cranica alla nascita e da dismorfismi facciali caratteristici (fronte bombata, ipertelorismo, rime palpebrali oblique verso il basso, proptosi, sella nasale piatta, orecchie a basso impianto, retrusione medio-facciale). Alla nascita, i pazienti presentano un cranio molle che, nel tempo, si ossifica progressivamente, per poi risultare deformato nell'età adulta (con brachicefalia e occipite prominente). Non sono presenti altre anomalie scheletriche e i pazienti hanno uno sviluppo cognitivo e motorio normale."},"nl":{"name":"Vertraagde membraneuze craniale ossificatie","synonyms":["Syndroom van Gonzales-del Angel"],"definition":"Vertraagde membraneuze craniale ossificatie is een zeldzame, genetische primaire botdysplasie die gekarakteriseerd wordt door gebrek aan ossificatie van de beenderen van het schedeldak (calvaria) bij de geboorte en kenmerkende faciale dysmorfie (boller voorhoofd, hypertelorisme, neerwaartse ooglidspleten, proptosis, platte neusbrug, laagstaande oren, retrusie van het middengezicht). Patiënten vertonen bij de geboorte een zachte schedel die na verloop van tijd progressief ossificeert en in de volwassenheid doorgaans resulteert in een misvormde schedel (met brachycefalie en uitgesproken achterhoofd). Er zijn geen andere afwijkingen van het skelet geassocieerd en patiënten vertonen normale cognitieve en motorische ontwikkeling."},"pt":{"name":"Atraso na ossificação craniana membranosa","synonyms":["Síndrome Gonzales-del Angel"]},"pl":{"name":"Opóźnienie kostnienia czaszki","synonyms":["Zespół Gonzales del Angela"]},"cs":{"name":"Opožděná membranózní osifikace lebky","synonyms":["Gonzalez-del Angelové syndrom"]},"uk":{"name":"Затримка мембранозного окостеніння черепа","synonyms":["Синдром Гонсалеса-дель-Анхеля"],"definition":"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development."},"zh":{"name":"颅骨膜性成骨延迟","synonyms":["Gonzales-del Angel综合征"]},"tr":{"name":"Gecikmiş membranöz kraniyal kemikleşme","synonyms":["Gonzales-del Angel sendromu"]}},"xrefs":[{"source":"OMIM","code":"155980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"766852360"},{"source":"MONDO","code":"0007971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563592","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835030","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","classifications":[147,156,199]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10861662[PMID]_1481847[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10861662[PMID]_1481847[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null}]}}