{"orpha":2549,"name":"Oculoauriculovertebral spectrum with radial defects","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hemifacial microsomia-radial defects syndrome","Moeschler-Clarren syndrome"],"definition":"A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2549/","orphanet_url":"https://www.orpha.net/en/disease/detail/2549","names":{"fr":{"name":"Spectre oculo-auriculo-vertébral avec anomalies radiales","synonyms":["Syndrome de Moeschler-Clarren","Syndrome de microsomie hémifaciale-anomalies radiales"],"definition":"Trouble rare du développement des bourgeons des membres et des arcs branchiaux, caractérisé par divers degrés de malformation crânio-faciale uni- ou bilatérale et des anomalies radiales, ce qui conduit à des manifestations phénotypiques très variables. Les signes caractéristiques incluent un faible poids à la naissance, une petite taille, des anomalies vertébrales, une perte auditive et une dysmorphie faciale (asymétrie faciale, malformations de l'oreille externe, moyenne et interne, fentes orofaciales, hypoplasie mandibulaire). Ces caractéristiques sont invariablement associées à des anomalies radiales telles qu'une polydactylie préaxiale, une hypoplasie/agénésie du pouce et/ou du radius, ou un pouce triphalangé. Une atteinte cardiaque, pulmonaire, rénale et du système nerveux central a aussi été rapportée."},"de":{"name":"Okulo-aurikulo-vertebrales Spektrum mit radialen Defekten","synonyms":["Moeschler-Claren-Syndrom"],"definition":"Eine seltene Entwicklungsstörung der Kiemenbögen und Extremitätenanlagen, die durch unterschiedlich starke ein- oder beidseitige kraniofaziale Fehlbildungen und radiale Defekte gekennzeichnet ist und zu äußerst unterschiedlichen phänotypischen Erscheinungsformen führt. Zu den charakteristischen Merkmalen gehören ein niedriges postnatales Gewicht, Kleinwuchs, Wirbelkörperdefekte, Hörverlust und Gesichtsdysmorphien (einschließlich Gesichtsasymmetrie, Fehlbildungen des Außen-, Mittel- und Innenohrs, orofaziale Spalten und Unterkieferhypoplasie). Diese Merkmale sind immer mit radialen Defekten verbunden, wie z. B. präaxiale Polydaktylie, Daumen- und/oder Radiushypoplasie/-agenesie oder Daumen mit drei Fingergliedern. Es wurde auch über eine Beteiligung des Herzens, der Lunge, der Nieren und des zentralen Nervensystems berichtet."},"es":{"name":"Espectro oculoauriculovertebral con anomalias radiales","synonyms":["Microsomia hemifacial-defectos radiales","Síndrome de Moeschler-Clarren"],"definition":"Es un trastorno poco frecuente de los arcos branquiales y del desarrollo del primordio de las extremidades caracterizado por un grado variable de malformaciones craneofaciales uni o bilaterales y anomalías radiales que resultan en manifestaciones fenotípicas extremadamente variables. Los rasgos característicos incluyen bajo peso postnatal, baja estatura, anomalías vertebrales, pérdida auditiva, y rasgos dismórficos faciales (incluyendo asimetría facial, malformaciones del oído externo, medio e interno, hendidura orofacial e hipoplasia mandibular). Estos rasgos están invariablemente asociados a anomalías radiales, tales como polidactilia preaxial, hipoplasia/agenesia del pulgar y/o radio o pulgar trifalángico. Asimismo, se ha descrito la afectación cardíaca, pulmonar, renal y del sistema nervioso central."},"it":{"name":"Spettro oculo-auricolo-vertebrale con anomalie radiali","synonyms":["Microsomia emifacciale - anomalie radiali","Sindrome di Moeschler-Clarren"],"definition":"Lo spettro oculo-auricolo-vertebrale (OAVS) con anomalie radiali è una malattia rara dello sviluppo primitivo degli archi branchiali e degli arti; è caratterizzata da malformazioni di gravità variabile del distretto cranio-facciale, a localizzazione mono-bilaterale, e difetti radiali. I segni clinici caratteristici sono lo scarso peso dopo la nascita, la bassa statura, i difetti vertebrali, l'ipoacusia e i dismorfismi facciali (asimmetria del volto, malformazioni dell'orecchio esterno, medio e interno, schisi oro-facciali e ipoplasia mandibolare). Questi segni si associano sempre a difetti radiali, compresa la polidattilia preassiale, l'ipoplasia/agenesia del pollice e/o del radio e il pollice trifalangeo. Possono anche essere colpiti il cuore, il polmone, i reni, il sistema nervoso centrale."},"nl":{"name":"Oculo-auriculo-vertebraal spectrum met radiale defecten","synonyms":["Hemifaciale microsomie - radiale defecten","Moeschler-Clarrensyndroom"],"definition":"Een zeldzame ontwikkelingsstoornis van kieuwboog en primordia van ledematen, gekenmerkt door variabele gradaties van uni- of bilaterale craniofaciale malformatie en radiale defecten die resulteren in uiterst variabele fenotypische manifestaties. Typische kenmerken zijn laag postnataal lichaamsgewicht, kleine gestalte, vertebrale defecten, gehoorverlies, en faciale dysmorfie (waaronder asymmetrie van aangezicht, malformaties van uitwendig, midden-, en inwendig oor, orofaciale schisis, en mandibulaire hypoplasie). Deze kenmerken zijn steevast geassocieerd met radiale defecten, zoals preaxiale polydactylie, hypoplasie/agenesie van duim en/of spaakbeen, of trifalangeale duim. Betrokkenheid van hart, long, nier en centraal zenuwstelsel werd ook reeds gerapporteerd."},"pt":{"name":"Espectro clínico oculo-auriculo-vertebral com anomalias radiais","synonyms":["Microssomia hemifacial-anomalias radiais","Síndrome Moeschler-Clarren"]},"pl":{"name":"Spektrum oczno-uszno-kręgowe z defektem kości promieniowej","synonyms":["Połowicza mikrosomia twarzy - wady kości promieniowej","Zespół Moeschlera i Clarrena"],"definition":"Rzadkie zaburzenie rozwoju łuków skrzelowych i zawiązków kończyn, charakteryzujące się jedno- lub obustronnymi wadami rozwojowymi twarzoczaszki różnego stopnia oraz wadami strony promieniowej kończyn górnych, które wiążą się z wybitnie zmiennym obrazem fenotypowym. Cechy charakterystyczne to niska masa ciała po urodzeniu, niski wzrost, wady kręgów, niedosłuch i dysmorfia twarzy (m.in. asymetria twarzy, wady rozwojowe ucha zewnętrznego, środkowego i wewnętrznego, rozszczepy ustno-twarzowe i niedorozwój żuchwy). Cechy te są niezmiennie powiązane z wadami strony promieniowej kończyn górnych, takimi jak polidaktylia przedosiowa, hipoplazja/agenezja kciuka i/lub kości promieniowej lub kciuk trójpaliczkowy. Zgłaszano również zajęcie serca, płuc, nerek i ośrodkowego układu nerwowego."},"cs":{"name":"Okuloaurikulovertebrální spektrum s radiálním defektem (defektem střední čáry)","synonyms":["Syndrom zahrnující hemifaciální mikrozomii a radiální defekty","Moeschlerův-Clarrenův syndrom","Moeschler-Clarrenův syndrom"]},"uk":{"name":"Окулоаурикуловертебральний спектр з радіальними дефектами","synonyms":["Синдром геміфаціальної мікросомії-радіальних дефектів","Синдром Мешлера-Кларрена"],"definition":"A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported."},"zh":{"name":"眼耳椎骨异常伴桡骨缺陷","synonyms":["半侧颜面短小畸形-桡骨缺损综合征"]},"tr":{"name":"Radyal defektli oküloaurikülovertebral spektrum","synonyms":["Moeschler-Clarren sendromu","Hemifasiyal mikrozomi-radyal defekt sendromu"]}},"xrefs":[{"source":"OMIM","code":"141400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"145809034"},{"source":"MONDO","code":"0007712","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220681","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3653","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"17290277[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"17290277[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003778","label":"Short mandibular rami","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008706","label":"Distal urethral duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}