{"orpha":3329,"name":"Tibial aplasia-ectrodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aplasia of tibia with split-hand/split-foot deformity","SHFLD syndrome","SHFM associated with aplasia of long bones","Split hand/foot malformation with long bone deficiency","Split-hand/foot malformation associated with aplasia of long bones","TH-SHFM","Tibial hemimelia with split hand/foot malformation","Tibial hemimelia-ectrodactyly syndrome"],"definition":"A rare syndrome with limb reduction defects characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Clinical presentation is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3329/","orphanet_url":"https://www.orpha.net/en/disease/detail/3329","names":{"fr":{"name":"Syndrome de tibia aplasique-ectrodactylie","synonyms":["Aplasie du tibia avec anomalie des mains et pieds fendus","Hémimélie tibiale avec malformation des mains et pieds fendus","Malformation des mains et pieds fendus associée à une aplasie des os longs","Malformation des mains et pieds fendus avec une anomalie des os longs","Syndrome SHFLD","Syndrome d'hémimélie tibiale-ectrodactylie"],"definition":"Le syndrome d'hémimélie tibiale-ectrodactylie est une maladie rare caractérisée par une ectrodactylie congénitale des membres associée à une aplasie ou à une hypoplasie tibiale."},"de":{"name":"Tibiale Aplasie-Ektrodaktylie-Syndrom","synonyms":["SHFLD-Syndrom","SHFM in Assoziation mit Aplasie langer Knochen","Spaltbildungen an Händen/Füßen in Verbindung mit Aplasie der langen Knochen","TH-SHFM","Tibia-Hemimelie-Ektrodaktylie-Syndrom","Tibiaaplasie mit Spalthand-Spaltfuß-Deformität"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch angeborene ektrodaktyle Gliedmaßenfehlbildungen in Verbindung mit Tibiaaplasie oder -hypoplasie gekennzeichnet ist. Das klinische Erscheinungsbild ist sehr variabel und reicht von bilateraler Tibiaaplasie und Split-Hand-/Split-Fuß-Fehlbildung (Tetramonodaktylie oder transversale Hemimelie) bis hin zur mildesten sichtbaren Manifestation, hypoplastischen Großzehen. Weitere Fehlbildungen können distale Hypoplasie oder Bifurkation der Femora, Hypo- oder Aplasie der Ulnae sowie kleinere Anomalien wie Aplasie der Patellae, postaxiale und intermediäre Polydaktylie in Verbindung mit einer Spaltdeformität der Hand und schalenförmige Ohren sein."},"es":{"name":"Síndrome de aplasia tibial-ectrodactilia","definition":"Es un síndrome poco frecuente con defectos de reducción de las extremidades, caracterizado por malformaciones congénitas asociadas con aplasia o hipoplasia tibial. La presentación clínica es muy variable y abarca desde la aplasia bilateral de tibias y la deformidad de mano hendida/pie hendido (tetramonodactilia o hemimelia transversa) hasta la manifestación visible más leve, la hipoplasia de los dedos gordos de los pies. Otras malformaciones pueden incluir hipoplasia distal o bifurcación femoral, hipoplasia o aplasia de cúbitos y anomalías menores como aplasia rotuliana, polidactilia postaxial e intermedia asociada con deformidad de mano hendida y orejas en forma de embudo."},"it":{"name":"Aplasia della tibia - ectrodattilia","synonyms":["Schisi della mano - agenesia della tibia"]},"nl":{"name":"Aplasie van tibia - ectrodactylie-syndroom","synonyms":["Aplasie van tibia met gespleten hand/gespleten voet","Gespleten hand/voet-malformatie geassocieerd met aplasie van pijpbeenderen","Gespleten hand/voet-malformatie met deficiëntie van pijpbeenderen","SHFLD-syndroom","SHFM geassocieerd met aplasie van pijpbeenderen","TH-SHFM","Tibiale hemimelie - ectrodactylie-syndroom","Tibiale hemimelie met gespleten hand/voet-malformatie"],"definition":"Een zeldzaam syndroom met lengtedefecten van ledematen, gekenmerkt door congenitale ledemaatmalformaties met ectrodactylie geassocieerd met aplasie of hypoplasie van tibia. Het klinische beeld is zeer variabel, gaande van bilaterale aplasie van tibia en gespleten hand/gespleten voet (tetramonodactylie of transversale hemimelie) tot de meest milde zichtbare manifestatie, zijnde hypoplastische grote tenen. Mogelijke bijkomende malformaties zijn onder meer distale hypoplasie of bifurcatie van femur, hypo- of aplasie van ulna, en minimale anomalieën zoals aplasie van patella, postaxiale en intermediaire polydactylie in associatie met gespleten hand, en komvormige oren."},"pt":{"name":"Síndrome de aplasia da tíbia-ectrodactilia","synonyms":["Aplasia da tíbia com deformação da mão/pé fendido","Hemimelia tibial com malformação da mão/pé fendido","Malformação da mão/pé fendidos associada a aplasia dos ossos longos","Malformação da mão/pé fendidos com deficiência dos ossos longos","SHFLD associado a aplasia dos ossos longos","Síndrome SHFLD","Síndrome hemimelia tibial-ectodractilia"],"definition":"A síndrome de ectrodactilia-aplasia tibial é uma doença rara caracterizada por malformações congénitas ectrodactílicas dos membros, associadas a aplasia ou hipoplasia tibial."},"pl":{"name":"Aplazja kości piszczelowej - ektrodaktylia","synonyms":["Aplazja kości piszczelowej z rozszczepem dłoni/rozszczepem stopy","Hemimelia piszczelowa z rozszczepem dłoni/stopy","Rozszczep dłoni/stopy z ubytkiem kości długich","Rozszczep dłoni/stopy związany z aplazją kości długich","SHFM związany z aplazją kości długich","TH-SHFM","Zespół hemimelia piszczelowa-ektrodaktylia","Zespół SHFLD"]},"cs":{"name":"Syndrom zahrnující tibiální aplázii a ektrodaktylii","synonyms":["Aplázie tibie s deformitou split-hand/split-foot","SHFLD syndrom","SHFM asociovaná s aplázií dlouhých kostí","Split hand/foot malformace s deficitem dlouhých kostí","Split-hand/foot malformace asociovaná s aplázií dlouhých kostí","TH-SHFM","Tibiální hemimelie se split hand/foot malformací","Syndrom zahrnující tibiální hemimelii a ektrodaktylii"]},"uk":{"name":"Синдром аплазії великогомілкової кістки-ектродактилії","synonyms":["Аплазія великогомілкової кістки з деформацією розщепленої кисті/розщепленої стопи","Синдром SHFLD","SHFM, асоційована з аплазією довгих кісток","Роздвоєна вада кисті/стопи з дефіцитом довгих кісток","Розщеплення кисті/стопи, повязане з аплазією довгих кісток","TH-SHFM","Гемімелія великогомілкової кістки з роздвоєнням кисті/стопи","Синдром гемімелії-ектродактилії великогомілкової кістки"],"definition":"Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia."},"zh":{"name":"胫骨发育不良-先天性缺指(趾)畸形","synonyms":["长骨发育不全相关性手足裂畸形"]},"tr":{"name":"Tibial aplazi-ektrodaktili sendromu","synonyms":["TH-SHFM","SHFLD sendromu","Tibial hemimeli-ektrodaktili sendromu","Uzun kemik aplazisi ile seyreden SHFM","Bölünmüş el/ayak malformasyon ile seyreden tibiyal hemimeli","Ayrık el/ayrık ayak deformitesi ile seyreden tibiya aplazisi","Uzun kemik eksikliği ile seyreden ayrık el/ayak malformasyonu","Uzun kemik aplazisi ile seyreden ayrık el/ayak malformasyonu"]}},"xrefs":[{"source":"OMIM","code":"119100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610685","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612576","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2105655762"},{"source":"MONDO","code":"0018050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551989","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1369","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"BHLHA9","name":"basic helix-loop-helix family member a9","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"35126","ensembl":"ENSG00000205899","omim":"615416","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009756","label":"Popliteal pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Occasional (29-5%)","criteria":null}]}}