{"orpha":2793,"name":"Otoonychoperoneal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2793/","orphanet_url":"https://www.orpha.net/en/disease/detail/2793","names":{"fr":{"name":"Syndrome oto-onycho-péronéal","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysplasie des oreilles externes associée à une hypoplasie des ongles et des malformations squelettiques variables, telles qu'une hypoplasie ou agénésie des fibulas, des malformations de l'omoplate, de la clavicule et de l'articulation acromio-claviculaire, et un talipes equinovarus, entre autres. Des contractures articulaires et une légère dysmorphie faciale ont également été rapportées."},"de":{"name":"Oto-onycho-peroneales Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch die Assoziation von dysplastischen äußeren Ohren, Nagelhypoplasie und variablen Fehlbildungen des Skeletts gekennzeichnet ist, wie z. B. hypoplastische oder fehlende Fibulae, Anomalien des Schulterblatts, des Schlüsselbeins und des Akromioklavikulargelenks sowie Klumpfüße (Talipes equinovarus). Es wurde auch über Gelenkkontrakturen und leichte Gesichtsdysmorphien berichtet."},"es":{"name":"Síndrome oto-ónico-peroneal","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas caracterizado por la asociación de pabellones auriculares displásicos, hipoplasia ungueal y malformaciones esqueléticas variables, como hipoplasia o ausencia del peroné, anomalías de la escápula, la clavícula y la articulación acromioclavicular, y talipes equinovaro, entre otras. También se ha descrito la presencia de contracturas articulares y dismorfia facial leve."},"it":{"name":"Sindrome oto-onico-peroneale","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da displasia dell'orecchio esterno, ipoplasia delle unghie, anomalie scheletriche variabili (ipoplasia o agenesia del perone, anomalie della scapola, della clavicola e dell'articolazione acromioclavicolare e piedi equino-vari). I pazienti possono presentare anche contratture articolari e dismorfismi facciali sfumati."},"nl":{"name":"Oto-onycho-peroneaal syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door de associatie van dysplastische buitenoren, hypoplasie van nagels, en variabele malformaties van skelet, zoals onder meer hypoplastische of afwezige fibulae, afwijkingen van scapula, clavicula, en acromioclaviculair gewricht, en talipes equinovarus (klompvoet). Gewrichtscontracturen en milde faciale dysmorfie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome oto-onico-peroneal"},"pl":{"name":"Zespół uszno-paznokciowo-strzałkowy"},"cs":{"name":"Otoonychoperoneální syndrom"},"uk":{"name":"Отооніхоперонеальний синдром","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported."},"zh":{"name":"耳指甲腓骨综合征"},"tr":{"name":"Otoonkopperoneal sendrom"}},"xrefs":[{"source":"OMIM","code":"259780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1729559276"},{"source":"MONDO","code":"0009822","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850105","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4170","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"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]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"15216555[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15216555[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009756","label":"Popliteal pterygium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008577","label":"Underfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null}]}}