{"orpha":2440,"name":"Isolated split hand-split foot malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ectrodactyly","SHFM","Split hand foot malformation"],"definition":"A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2440/","orphanet_url":"https://www.orpha.net/en/disease/detail/2440","names":{"fr":{"name":"Malformation des mains et pieds fendus isolée","synonyms":["Ectrodactylie","SHFM"],"definition":"Anomalie congénitale rare du développement osseux caractérisée par un spectre de malformations des régions terminales des membres comprenant une hypoplasie/une absence de rayon médian des mains et des pieds (qui peut affecter un seul ou les quatre doigts), une fente médiane des mains et/ou des pieds de degré variable, une aplasie et une syndactylie de sévérité très variable, allant de la malformation du 3<sup>e</sup> doigt/orteil à une malformation en «&nbsp;pince de homard&nbsp;» des mains et des pieds. Il peut s'agir d'une malformation isolée ou d'une caractéristique de divers syndromes."},"de":{"name":"Isolierte Spalthand-Spaltfuß-Fehlbildung","synonyms":["Ektrodaktylie","SHFM","Spalthand-Spaltfuß-Fehlbildung"],"definition":"Eine seltene angeborene Störung der Skelettentwicklung,, die durch ein Spektrum von Fehlbildungen der letzten Gliedmaßen gekennzeichnet ist, einschließlich Hypoplasie/Fehlen der Mittelstrahlen der Hände und Füße (die bei einem bis zu allen vier Gliedmaßen auftreten können), unterschiedliche Grade von Mittelspalten der Hände und/oder Füße, Aplasie und Syndaktylie, mit einem breiten Spektrum von Schweregraden, die von fehlgebildeten Mittelfingern/-zehen bis zu einem Hummerklauen-ähnlichen Aussehen der Hände und Füße reichen. Sie kann als isolierte Fehlbildung auftreten oder ein Merkmal verschiedener Syndrome sein."},"es":{"name":"Malformación aislada de mano hendida-pie hendido","synonyms":["Ectrodactilia","Malformación de manos y pies hendidos","SHFM"],"definition":"Es un trastorno congénito del desarrollo óseo poco frecuente que se caracteriza por un espectro de malformaciones terminales de las extremidades que incluyen hipoplasia/ausencia de los rayos centrales de las manos y los pies (que puede ocurrir en uno a cuatro dedos), grado variables de hendiduras centrales de las manos y/o pies, aplasia y sindactilia, de gravedad variable que oscila desde una malformación del dedo central del pie o la mano hasta una deformidad en pinza de langosta en las manos y los pies. Puede presentarse como una malformación aislada o como una característica de varios síndromes."},"it":{"name":"Malformazione da schisi delle mani e dei piedi","synonyms":["Deformità a chela di aragosta","Ectrodattilia","Mani deformi a chela di aragosta","Mani e piedi deformi a chela di aragosta","SHFM"]},"nl":{"name":"Geïsoleerde gespleten hand-gespleten voet malformatie","synonyms":["Ectrodactylie","Gespleten hand-voetmisvorming","SHFM"],"definition":"Een zeldzame, congenitale aandoening van botontwikkeling, gekarakteriseerd door een spectrum van malformaties van terminale ledematen, waaronder hypoplasie/afwezigheid van centrale stralen van handen en voeten (mogelijk in één tot alle vier vingers/tenen), variabele gradaties van mediane schisis van handen en/of voeten, aplasie en syndactylie, met een brede waaier van gradaties van ernst, gaande van misvormde centrale vinger/teen tot kreeftenhanden en -voeten. De aandoening kan voorkomen als een geïsoleerde malformatie of als kenmerk bij verschillende syndromen."},"pt":{"name":"Malformação mão fendida-pé fendido isolada","synonyms":["Ectrodactilia das mãos e pés"]},"pl":{"name":"Rozszczep dłoni i stóp","synonyms":["Deformacja \"szczypce homara","Ektrodaktylia","Malformacja rozszczep dłoni/stopy","SHFM"]},"cs":{"name":"Rozštěp ruky a nohy","synonyms":["Ektrodaktylie","SHFM","Klepetovitá ruka či noha"]},"uk":{"name":"Ізольована вада розщеплена кисть-розщеплена стопа","synonyms":["Ектродактилія","SHFM","Роздвоєна вада розвитку кисті та стопи"],"definition":"A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes."},"zh":{"name":"孤立型手足裂畸形","synonyms":["分裂手足畸形"]},"tr":{"name":"İzole ayrık el-ayrık ayak malformasyonu","synonyms":["SHFM","Ektrodaktili","Bölünmüş el ayak malformasyonu"]}},"xrefs":[{"source":"OMIM","code":"183600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"225300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"246560","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"313350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605289","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606708","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"649911082"},{"source":"MONDO","code":"0016576","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265554","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6319","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":294935,"name":"OBSOLETE: Split hand or/and split foot malformation","status":"inactive"},{"type":"Referred to","orpha":294992,"name":"OBSOLETE: Split hand","status":"inactive"},{"type":"Referred to","orpha":294994,"name":"OBSOLETE: Split foot","status":"inactive"},{"type":"Referred to","orpha":295120,"name":"OBSOLETE: Split hand, unilateral","status":"inactive"},{"type":"Referred to","orpha":295122,"name":"OBSOLETE: Split hand, bilateral","status":"inactive"},{"type":"Referred to","orpha":295124,"name":"OBSOLETE: Split foot, unilateral","status":"inactive"},{"type":"Referred to","orpha":295126,"name":"OBSOLETE: Split foot, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BTRC","name":"beta-transducin repeat containing E3 ubiquitin protein ligase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24115638[PMID]_16691619[PMID]","hgnc":"1144","ensembl":"ENSG00000166167","omim":"603482","loci":["10q24.32"]},{"symbol":"SEM1","name":"SEM1 26S proteasome subunit","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23169702[PMID]","hgnc":"10845","ensembl":"ENSG00000127922","omim":"601285","loci":["7q21.3"]},{"symbol":"EPS15L1","name":"epidermal growth factor receptor pathway substrate 15 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29023680[PMID]","hgnc":"24634","ensembl":"ENSG00000127527","omim":"616826","loci":["19p13.11"]},{"symbol":"DLX5","name":"distal-less homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24496061[PMID]","hgnc":"2918","ensembl":"ENSG00000105880","omim":"600028","loci":["7q21.3"]},{"symbol":"DLX6","name":"distal-less homeobox 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28611547[PMID]","hgnc":"2919","ensembl":"ENSG00000006377","omim":"600030","loci":["7q21.3"]},{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10839977[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]},{"symbol":"WNT10B","name":"Wnt family member 10B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18515319[PMID]_20635353[PMID]","hgnc":"12775","ensembl":"ENSG00000169884","omim":"601906","loci":["12q13.12"]},{"symbol":"FBXW4","name":"F-box and WD repeat domain containing 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16235095[PMID]","hgnc":"10847","ensembl":"ENSG00000107829","omim":"608071","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.4,"area":"Europe","status":"Validated","source":"8766141[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.4,"area":"China","status":"Validated","source":"20506663[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"Canada","status":"Validated","source":"20506663[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Hungary","status":"Validated","source":"ISBN:9630566311[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"United States","status":"Validated","source":"11581472[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"24115638[PMID]","terms":[{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004058","label":"Hand monodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null}]}}