{"orpha":1113,"name":"Aphalangy-syndactyly-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1113/","orphanet_url":"https://www.orpha.net/en/disease/detail/1113","names":{"fr":{"name":"Syndrome d'aphalangie-syndactylie-microcéphalie","definition":"Malformation syndromique extrêmement rare caractérisée par l'association d'une aphalangie distale partielle avec la syndactylie, la duplication du quatrième métatarsien, la microcéphalie et une déficience intellectuelle légère."},"de":{"name":"Aphalangie-Syndaktylie-Mikrozephalie-Syndrom"},"es":{"name":"Síndrome de afalangia-sindactilia-microcefalia","definition":"Es un síndrome malformativo muy poco frecuente caracterizado por la asociación de afalangia parcial distal con sindactilia, duplicación del 4º metatarsiano, microcefalia y discapacidad intelectual leve."},"it":{"name":"Afalangia - sindattilia - microcefalia","definition":"L'afalangia-sindattilia-microcefalia è una sindrome malformativa molto rara, caratterizzata dall'associazione tra afalangia distale parziale, sindattilia, duplicazione del quarto metatarso, microcefalia e disabilità intellettiva lieve."},"nl":{"name":"Afalangie - syndactylie - microcefalie-syndroom","definition":"Een uiterst zeldzaam malformatiesyndroom, gekarakteriseerd door de associatie van partiële distale afalangie met syndactylie, duplicatie van metatarsaal IV, microcefalie, en milde intellectuele achterstand."},"pt":{"name":"Síndrome de afalangia-sindactilia-microcefalia"},"pl":{"name":"Brak paliczków - syndaktylia - mikrocefalia"},"cs":{"name":"Syndrom zahrnující afalangii, syndaktylii a mikrocefalii"},"uk":{"name":"Синдром афалангії-синдактилії-мікроцефалії","definition":"An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability."},"zh":{"name":"无指（趾）畸形-并指（趾）-小头畸形综合征"},"tr":{"name":"Afalanji-sindaktili-mikrosefali sendromu"}},"xrefs":[{"source":"OMIM","code":"600384","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304033","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"748","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"19449409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19449409[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","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:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null}]}}