{"orpha":3246,"name":"Symphalangism with multiple anomalies of hands and feet","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Learman syndrome"],"definition":"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3246/","orphanet_url":"https://www.orpha.net/en/disease/detail/3246","names":{"fr":{"name":"Syndrome de symphalangie-anomalies multiples des mains et des pieds","synonyms":["Syndrome de Learman"],"definition":"Anomalie congénitale rare des membres d'origine génétique, caractérisée par un symphalangisme bilatéral des mains et des pieds associé à une syndactylie cutanée des 2<sup>es</sup> à 5<sup>es</sup> doigts , une brachydactylie unilatérale ou bilatérale de type D (c'est-à-dire des phalanges terminales des pouces courtes et larges), une clinodactylie des 5<sup>es</sup> orteils et/ou une légère hypoplasie des éminences thénar et hypothénar. Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Symphalangismus mit multiplen Anomalien der Hände und Füße","synonyms":["Learman-Syndrom"]},"es":{"name":"Sinfalangismo-anomalías múltiples de manos y pies","synonyms":["Síndrome de Learman"],"definition":"Es un trastorno malformativo congénito de las extremidades, genético y poco frecuente, caracterizado por sinfalangismo bilateral de manos y pies asociado a sindactilia cutánea de los dedos 2º-4º, braquidactilia uni- o bilateral tipo D (es decir, falanges terminales de los pulgares anchas y cortas), clinodactilia del 5º dedo del pie y/o hipoplasia leve de la eminencia tenar e hipotenar. No se han descrito más casos en la literatura desde 1981."},"it":{"name":"Sinfalangismo con anomalie multiple delle mani e dei piedi","synonyms":["Sindrome di Learman"],"definition":"Il sinfalangismo con anomalie multiple delle mani e dei piedi è una malformazione congenita rara degli arti, di origine genetica, caratterizzata da sinfalangismo bilaterale delle mani e dei piedi, associato a sindattilia cutanea del II-V dito, brachidattilia tipo D mono- o bi-laterale (falangi terminali dei pollici corte e larghe), clinodattilia del quinto dito del piede e/o lieve ipoplasia dell'eminenza tenar e ipotenar. Non sono stati descritti nuovi casi dopo il 1981."},"nl":{"name":"Symfalangisme met meervoudige anomalieën van handen en voeten","synonyms":["Syndroom van Learman"],"definition":"Symfalangisme met meervoudige anomalieën van handen en voeten is een zeldzame, genetische, congenitale malformatie van ledematen, en wordt gekarakteriseerd door bilateraal symfalangisme van handen en voeten, geassocieerd met cutane syndactylie van vingers/tenen II-V, unilaterale of bilaterale brachydactylie type D (i.e. korte en brede terminale falangen van de duimen), clinodactylie van de vijfde tenen en/of milde hypoplasie van de spieren van de duim- en pinkmuis. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Sinfalangia com anomalias múltiplas das mãos e pés","synonyms":["Síndrome Learman"]},"pl":{"name":"Symfalangizm z wielokrotnymi wadami dłoni i stóp","synonyms":["Zespół Learmana"],"definition":"*Symfalangizm z licznymi wadami dłoni i stóp jest rzadką, genetycznie uwarunkowaną, wrodzoną wadą kończyn, która charakteryzuje się obustronnym symfalangizmem (kościozrostem) dłoni i stóp, związanym z syndaktylią skórną palców II-V, jednostronną lub obustronną brachydaktylią typu D (tzn. krótkie, szerokie końcowe paliczki kciuków), klinodaktylią piątych palców stóp i/lub) łagodną hipoplazją wyniosłości kłębu i kłębika. Od 1980 roku nie pojawiły się w literaturze nowe opisy tego zespołu.inf brsup inf brsup"},"cs":{"name":"Symfalangismus s mnohočetnými anomáliemi ruky a nohy","synonyms":["Learmanův syndrom"]},"uk":{"name":"Симфалангізм з множинними аномаліями кистей і стоп","synonyms":["Синдром Лірмана"],"definition":"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981."},"zh":{"name":"指关节粘连伴手足多发畸形","synonyms":["Learman综合征"]},"tr":{"name":"Çoklu el ve ayak anomalisi olan simfalangizm","synonyms":["Learman sendromu"]}},"xrefs":[{"source":"OMIM","code":"185750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008510","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861391","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"6272576[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6272576[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-10","source":"6272576[PMID]","terms":[{"hpo":"HP:0006019","label":"Reduced proximal interphalangeal joint space","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004197","label":"Symphalangism of the 4th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004218","label":"Symphalangism of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010182","label":"Abnormality of the distal phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001032","label":"Absent distal interphalangeal creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005807","label":"Absent distal phalanges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009700","label":"Finger symphalangism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010487","label":"Small hypothenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001245","label":"Small thenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010179","label":"Symphalangism affecting the phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005650","label":"2-5 finger cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006143","label":"Abnormal finger flexion creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001018","label":"Abnormal palmar dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100371","label":"Aplasia/Hypoplasia of the distal phalanx of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010103","label":"Short distal phalanx of hallux","frequency":"Occasional (29-5%)","criteria":null}]}}