{"orpha":1794,"name":"Oculomaxillofacial dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Richieri-Costa-Gorlin syndrome"],"definition":"Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1794/","orphanet_url":"https://www.orpha.net/en/disease/detail/1794","names":{"fr":{"name":"Dysostose oculo-maxillo-faciale","synonyms":["Syndrome de Richieri Costa-Gorlin"],"definition":"La dysostose oculo-maxillo-faciale est une anomalie génétique rare du développement osseux. Elle se caractérise par une petite taille, des anomalies oculaires et de la région orbitaire (orbites asymétriques, anophtalmie, fentes palpébrales en forme de S, obliques en bas et en dehors, cils/sourcils épars, paupières anormales, ectropion, symblépharon, leucome cornéen), un nez anormal (racine, pont et pointe nasale larges et anormalement modelés, déviation latérale), hypoplasie malaire, fente labiale/palatine et des fentes faciales obliques. Un déficit intellectuel, une microcéphalie, une micrognathie et des anomalies des membres (hémimélie, ceinture scapulaire anormale, brachydactylie, syndactylie, gros orteils larges) ont aussi été rapportés."},"de":{"name":"Dysostose, okulo-maxillo-faziale","synonyms":["Richieri-Costa-Gorlin-Syndrom"],"definition":"Eine seltene, genetisch bedingte Knochenentwicklungsstörung, die durch Kleinwuchs, Anomalien der Orbitalregion und Augen (z.B. asymmetrische Augenhöhlen, Anophthalmie, schräg nach unten verlaufende und S-förmige Lidspalten, spärliche Augenbrauen/Wimpern, abnorme Augenlider, Ektropium, Symblepharon, Hornhautleukom), Nasenanomalien (z. B. breite und ungewöhnlich modellierte Nasenwurzel, Nasenrücken und Nasenspitze, seitliche Abweichung), Malarhypoplasie, Lippen-Gaumenspalte und schräge Gesichtsspalten. Intelligenzminderung, Mikrozephalie, Mikrognathie und Gliedmaßenanomalien (z. B. Hemimelie, Schultergürtelanomalien, Brachydaktylie, Syndaktylie, breite Großzehen) sind ebenfalls berichtet worden."},"es":{"name":"Disostosis óculo-máxilo-facial","synonyms":["Síndrome de Richieri-Costa-Gorlin"],"definition":"La disostosis oculomaxilofacial es un trastorno genético poco frecuente del desarrollo óseo caracterizado por talla baja, anomalías oculares y de la región orbital (tales como, órbitas asimétricas, anoftalmia, fisuras palpebrales inclinadas hacia abajo o en forma de 'S', cejas/pestañas dispersas, párpados anómalos, ectropión, simbléfaron, leucoma corneal), nariz anómala (por ejemplo, raíz, puente y base nasal amplios y anormalmente modelados, desviación lateral), hipoplasia malar, labio leporino/paladar hendido y hendiduras faciales oblicuas. También se ha observado discapacidad intelectual, microcefalia, micrognatia y anomalías de las extremidades (por ejemplo, hemimelia, cintura escapular anómala, braquidactilia, sindactilia, halluces anchos)."},"it":{"name":"Disostosi oculo-maxillo-facciale","synonyms":["Sindrome di Richieri Costa-Gorlin"],"definition":"La disostosi oculo-maxillo-facciale è un malattia genetica rara dello sviluppo scheletrico, caratterizzato da bassa statura, anomalie oculari e della regione orbitale (asimmetria delle orbite, anoftalmia, rime palpebrali oblique verso il basso a forma di S, sopracciglia/ciglia rade, anomalie delle palpebre, ectropion, simblefaron, leucoma corneale), anomalie del naso (radice, sella e punta del naso ampie e dalla forma anomala, deviazione laterale), ipoplasia mascellare, labio/palatoschisi e schisi facciali oblique. Sono stati osservati pazienti con disabilità intellettiva, microcefalia, micrognatia e anomalie degli arti (emimelia, anomalie dei cingoli scapolari, brachidattilia, sindattilia, alluci larghi)."},"nl":{"name":"Oculomaxillofaciale dysostose","synonyms":["Syndroom van Richieri-Costa-Gorlin"],"definition":"Oculo-maxillo-faciale dysostose is een zeldzame, genetische stoornis van de botontwikkeling die wordt gekarakteriseerd door een kleine gestalte, afwijkingen aan de oogkassen en de ogen (e.g. asymmetrische oogkassen, anoftalmie, neerwaartse en S-vormige ooglidspleten, schaarse wenkbrauwen/wimpers, abnormale oogleden, ectropion, symblefaron, leukoom van de cornea), abnormale neus (e.g. brede en abnormaal gevormde neusbasis, -brug en -punt, laterale afwijking), hypoplasie van de jukbeenderen, gespleten lip/verhemelte, en schuine gezichtsspleten. Intellectuele achterstand, microcefalie, micrognathie en anomalieën van de ledematen (e.g. hemimelie, abnormale schoudergordel, brachydactylie, syndactylie, brede grote tenen) werden ook reeds gerapporteerd."},"pt":{"name":"Disostose óculo-maxilo-facial","synonyms":["Síndrome Richieri-Costa-Gorlin"]},"pl":{"name":"Dyzostoza oczno-szczękowo-twarzowa","synonyms":["Zespół Richieri, Costa i Gorlina"]},"cs":{"name":"Okulomaxilofaciální dysostóza","synonyms":["Richieri-Costův-Gorlinův syndrom","Richieri-Costa-Gorlinův syndrom"]},"uk":{"name":"Окуло-щелепно-лицевий дизостоз","synonyms":["Синдром Річчієрі-Коста-Горліна"],"definition":"Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported."},"zh":{"name":"眼-上颌-面骨发育不良","synonyms":["Richieri-Costa-Gorlin综合征"]},"tr":{"name":"Okülomaksillofasiyal disostoz","synonyms":["Richieri-Costa-Gorlin sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"921026296"},{"source":"MONDO","code":"0015824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838348","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4046","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7856656[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7856656[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}