{"orpha":603494,"name":"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["COMMAD syndrome"],"definition":"A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-603494/","orphanet_url":"https://www.orpha.net/en/disease/detail/603494","names":{"fr":{"name":"Syndrome de colobome-microphtalmie-macrocéphalie-albinisme-surdité","synonyms":["Syndrome COMMAD"],"definition":"Hypoplasie syndromique du nerf optique caractérisée par un colobome, une ostéopétrose (affectant avant tout la partie antérieure des côtes et les têtes fémorales), une microphtalmie sévère, une macrocéphalie, un albinisme et une surdité congénitale profonde. Les patients peuvent également présenter d'autres anomalies oculaires, notamment une microcornée avec pannus, une cataracte bilatérale dense et un iris translucide. Une dysmorphie craniofaciale (front proéminent, orbites peu profondes, fosses pré-auriculaires, oreilles orientées vers l'arrière, micrognathie et larges crêtes de l'os palatin) est également rapportée."},"de":{"name":"Kolobom-Osteopetrose-Mikrophthalmie-Makrozephalie-Albinismus-Schwerhörigkeit-Syndrom","synonyms":["COMMAD-Syndrom"],"definition":"Ein seltenes genetisches Syndrom, das gekennzeichnet ist durch die Assoziation von Kolobom, Osteopetrose (insbesondere der vorderen Rippen und Oberschenkelköpfe), schwere Mikrophthalmie, Makrozephalie, Albinismus und angeborene Schallempfindungsschwerhörigkeit. Die Patienten können zusätzlich Augenanomalien aufweisen, wie beispielsweise eine Mikrohornhaut mit Pannus, dichte beidseitige Katarakte und durchscheinende Iriden. Zudem werden kraniofaziale Dysmorphien (einschließlich Balkonstirn, flache Augenhöhlen, präaurikuläre Gruben, nach hinten gedrehte Ohren, Mikrognathie und breite Gaumenkämme) beschrieben."},"es":{"name":"Síndrome de coloboma-osteopetrosis-microftalmia-macrocefalia-albinismo-sordera","synonyms":["Síndrome COMMAD"],"definition":"Es una hipoplasia sindrómica poco frecuente del nervio óptico caracterizada por coloboma, osteopetrosis (particularmente de las costillas anteriores y cabezas femorales), microftalmía grave, macrocefalia, albinismo y sordera congénita profunda. Los pacientes pueden presentar anomalías oculares adicionales, como microcórnea con pannus, catarata bilateral densa e iris translúcido. También se ha descrito dismorfia craneofacial (que incluye frente prominente, órbitas poco profundas, fositas preauriculares, orejas en rotación posterior, micrognatia y ensanchamiento de las crestas palatinas)."},"it":{"name":"Sindrome da coloboma-osteopetrosi-microftalmia-macrocefalia-albinismo-sordità","synonyms":["Sindrome COMMAD"]},"nl":{"name":"Coloboom - osteopetrose - microftalmie - macrocefalie - albinisme - doofheid-syndroom","synonyms":["COMMAD-syndroom"],"definition":"Een zeldzame syndromale hypoplasie van nervus opticus, gekenmerkt door coloboom, osteopetrose (vooral van anterieure ribben en femurkoppen), ernstige microftalmie, macrocefalie, albinisme, en ernstige congenitale doofheid. Patiënten hebben mogelijk ook bijkomende ooganomalieën, waaronder microcornea met pannus, dense bilaterale cataracten, en translucente irissen. Craniofaciale dysmorfie (met onder meer boller voorhoofd, ondiepe oogkassen, pre-auriculaire putjes, naar achteren gedraaide oren, micrognathie en brede crista conchalis) wordt ook gerapporteerd."},"pt":{"name":"Síndrome de coloboma-osteopetrose-microftalmia-macrocefalia-albinismo-surdez","synonyms":["Síndrome COMMAD"],"definition":"Hipoplasia sindrómica do nervo óptico caracterizada por coloboma, osteopetrose (particularmente das costelas anteriores e cabeças femorais), microftalmia grave, macrocefalia, albinismo e surdez congénita profunda. Os doentes também podem ter anomalias oculares adicionais, incluindo microcórnea com pannus, cataratas bilaterais densas e íris translúcidas. Dismorfismo craniofacial (incluindo bossa frontal, órbitas rasas, fossetas pré-auriculares, orelhas rotacionadas posteriormente, micrognatia e cristas palatinas largas) também é relatado."},"pl":{"name":"Zespół wrodzonego rozszczepu tęczówki-osteopetrozy-małoocza-wielkogłowia-albinizmu-głuchoty","synonyms":["COMMAD syndrome"],"definition":"Rzadka syndromiczna hipoplazja nerwu wzrokowego charakteryzująca się obecnością szczeliny oka (coloboma), osteopetrozą (szczególnie przednich żeber i głów kości udowych), ciężkim małooczem, makrocefalią, albinizmem i głęboką wrodzoną głuchotą. Mogą również wystąpić inne anomalie oczu, w tym mikrorogówka z obecnością łuszczki, zaawansowana obustronna zaćma i przezroczyste tęczówki. Zgłaszano również dysmorfię czaszkowo-twarzową (w tym wydatne guzy czołowe, płytkie oczodoły, dołki przeduszne, małżowiny uszne zrotowane do tyłu, mikrognację i szerokie grzebienie podniebienne)."},"cs":{"name":"Syndrom zahrnující kolobom, osteopetrózu, mikroftalmii, makrocefalii, albinismus a hluchotu","synonyms":["COMMAD syndrome"]},"uk":{"name":"Синдром колобоми-остеопетрозу-мікрофтальмії-макроцефалії-альбінізму-глухоти","synonyms":["Синдром COMMAD"],"definition":"A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported."},"tr":{"name":"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","synonyms":["COMMAD syndrome"]}},"xrefs":[{"source":"OMIM","code":"617306","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310625","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]},{"orpha":137905,"name":"Syndromic optic nerve hypoplasia","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27889061[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27889061[PMID]_ORPHANET"}],"phenotypes":null}