{"orpha":2513,"name":"Microcephaly-albinism-digital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Castro Gago-Pombo-Novo syndrome"],"definition":"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2513/","orphanet_url":"https://www.orpha.net/en/disease/detail/2513","names":{"fr":{"name":"Syndrome de microcéphalie-albinisme-anomalies digitales","synonyms":["Syndrome de Castro Gago-Pombo-Novo"],"definition":"Le syndrome microcéphalie - albinisme - anomalies digitales est un très rare syndrome associant une microcéphalie avec micrognathie, un albinisme oculocutané, une hypoplasie des phalanges distales des doigts et une agénésie de l'extrémité distale du gros orteil droit."},"de":{"name":"Mikrozephalie - Albinismus - Fingeranomalien","synonyms":["Castro-Gago-Pomto Novo-Syndrom"],"definition":"Das Mikrozephalie-Albinismus-Fingeranomalien-Syndrom ist ein sehr seltenes Syndrom mit Mikrozephalie, Mikrogenie, okulo-kutanem Albinismus, Hypoplasie der Endphalangen der Finger und Agenesie des distalen Endes der rechten Großzehe."},"es":{"name":"Síndrome de microcefalia-albinismo-anomalías digitales","definition":"El síndrome microcefalia - albinismo - anomalías digitales es un síndrome muy raro que asocia microcefalia, micrognatia, albinismo oculocutáneo, hipoplasia de la falange distal de los dedos de la mano y agenesia del extremo distal del dedo gordo del pie derecho."},"it":{"name":"Microcefalia - albinismo - anomalie digitali","synonyms":["Sindrome di Castro Gago-Pombo-Novo"]},"nl":{"name":"Microcefalie - albinisme - digitale anomalieën-syndroom","synonyms":["Syndroom van Castro Gago-Pombo-Novo"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door associatie van microcefalie, micrognathie, oculocutaan albinisme, hypoplasie van distale falanx van vingers, en agenesie van distaal uiteinde van rechter grote teen."},"pt":{"name":"Síndrome de microcefalia-albinismo-anomalias dos dedos","synonyms":["Síndrome Castro Gago-Pombo-Novo"],"definition":"A síndrome microcefalia - albinismo - anomalias digitais é uma síndrome muito rara que associa microcefalia, micrognatia, albinismo oculocutâneo, hipoplasia da falange distal dos dedos das mãos e agenesia da extremidade distal do hálux direito."},"pl":{"name":"Małogłowie - albinizm - wady palców","synonyms":["Zespół Castro Gago, Pombo i Novo"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, albinismus a anomálie prstů","synonyms":["Castro Gagoův-Pombové-Novoův syndrom","Castro Gago-Pombo-Novoův syndrom"]},"uk":{"name":"Синдром мікроцефалії-альбінізму- аномалій пальців","synonyms":["Синдром Кастро-Гаго-Помбо-Ново"],"definition":"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe."},"zh":{"name":"小头畸形-白化症-手指异常综合征","synonyms":["Castro Gago-Pombo-Novo综合征"]},"tr":{"name":"Mikrosefali-albinizm-dijital anomaliler sendromu","synonyms":["Castro Gago-Pombo-Novo sendromu"]}},"xrefs":[{"source":"OMIM","code":"203340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008750","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537322","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859910","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3604","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6660641[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6660641[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-29","source":null,"terms":[{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null}]}}