{"orpha":1570,"name":"Symbrachydactyly of hands and feet","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["De Smet-Fabry-Fryns syndrome"],"definition":"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1570/","orphanet_url":"https://www.orpha.net/en/disease/detail/1570","names":{"fr":{"name":"Symbrachydactylie des pieds et des mains","synonyms":["Syndrome de De Smet-Fabry-Fryns"],"definition":"La symbrachydactylie des pieds et des mains est un trouble rare et non syndromique de réduction des membres, caractérisé par une brachydactylie unilatérale ou bilatérale, une syndactylie cutanée et une hypoplasie globale de la main et/ou du pied, associées à une atteinte des muscles, tendons, ligaments et os sous-jacents, mais en l'absence d'autres anomalies des membres. Les patients ont généralement des doigts et/ou des orteils raccourcis, raides, palmés ou absents, qui sont souvent remplacés par de petits moignons (protubérance) avec des ongles résiduels."},"de":{"name":"Symbrachydaktylie der Hände und Füße","synonyms":["De Smet-Fabry-Fryns-Syndrom"],"definition":"Die Symbrachydaktylie der Hände und Füße ist eine seltene, nicht-syndromale Gliedmaßenreduktionsstörung, die durch ein- oder beidseitige Brachydaktylie, kutane Syndaktylie und globale Hypoplasie der Hand und/oder des Fußes gekennzeichnet ist, wobei die darunter liegenden Muskeln, Sehnen, Bänder und Knochen betroffen sind, aber keine anderen Gliedmaßenanomalien damit einhergehen. Die Patienten weisen typischerweise kurze, steife, mit Schwimmhäuten versehene oder fehlende Finger und/oder Zehen auf, die oft durch kleine Stümpfe (Nubbins) mit Restnägeln ersetzt werden."},"es":{"name":"Simbraquidactilia de manos y pies","synonyms":["Síndrome de De Smet-Fabry-Fryns"],"definition":"La simbraquidactilia de manos y pies es un trastorno no-sindrómico poco frecuente de reducción de las extremidades caracterizado por braquidactilia unilateral o bilateral, sindactilia cutánea e hipoplasia global de la mano y/o pie, con afectación de músculos, tendones, ligamentos y huesos subyacentes pero sin otras anomalías de las extremidades asociadas. Por lo general, los afectados presentan dedos de las manos y/o pies cortos, rígidos, palmeados o ausentes que a menudo se reemplazan con pequeños muñones (protuberancias) con uñas residuales."},"it":{"name":"Sinbrachidattilia delle mani e dei piedi","synonyms":["Sindrome di De Smet-Fabry-Fryns"],"definition":"La sinbrachidattilia delle mani e dei piedi è un difetto raro e non sindromico da riduzione degli arti, caratterizzato da brachidattilia mono- o bilaterale, sindattilia cutanea e ipoplasia globale delle mani e/o dei piedi, con interessamento dei muscoli, dei tendini, dei legamenti e delle ossa, in assenza di altre anomalie degli arti. Di solito i pazienti presentano dita corte, rigide o con pliche interdigitali; talvolta le dita delle mani e/o dei piedi sono assenti o sono sostituite da piccoli monconi (protuberanze) con unghie residue."},"nl":{"name":"Symbrachydactylie van handen en voeten","synonyms":["De Smet-Fabry-Frynssyndroom"],"definition":"Symbrachydactylie van handen en voeten is een zeldzaam, niet-syndromaal ledemaatreductiedefect dat gekarakteriseerd wordt door unilaterale of bilaterale brachydactylie, cutane syndactylie en globale hypoplasie van de handen en/of voeten, waarbij de onderliggende spieren, pezen, ligamenten en botten getroffen worden, maar zonder andere geassocieerde anomalieën van de ledematen. Doorgaans vertonen patiënten korte, stijve, met elkaar vergroeide of ontbrekende vingers en/of tenen die vaak vervangen zijn door kleine stompen met restanten van nagels."},"pt":{"name":"Simbraquidactilia das mãos e pés","synonyms":["Síndrome De Smet-Fabry-Fryns"]},"pl":{"name":"Symbrachydaktylia dłoni i stóp","synonyms":["Zespół De Smeta, Fabry'ego i Frynsa"]},"cs":{"name":"Symbrachydaktylie rukou a nohou","synonyms":["De Smetův-Fabryho-Frynsův syndrom","De Smet-Fabry-Frynsův syndrom"]},"uk":{"name":"Симбрахідактилія рук і ніг","synonyms":["Синдром де Смет-Фабрі-Фрінса"],"definition":"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails."},"zh":{"name":"手足指(趾)蹼畸形","synonyms":["De Smet-Fabry-Fryns 综合征"]},"tr":{"name":"El ve ayakların simbrakidaktili","synonyms":["De Smet-Fabry-Fryns sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB75.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"159463685"},{"source":"MONDO","code":"0015516","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931719","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1680","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"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":"9555583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9555583[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100745","label":"Abnormality of the humeroulnar joint","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null}]}}