{"orpha":957,"name":"Acropectorovertebral dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["F syndrome"],"definition":"A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-957/","orphanet_url":"https://www.orpha.net/en/disease/detail/957","names":{"fr":{"name":"Dysplasie acropectorovertébrale","synonyms":["Syndrome F","Dysgénésie acro-pectoro-vertébrale"],"definition":"Dysplasie rare du squelette d'origine génétique caractérisée par des synostoses du carpe et du tarse (les synostoses entre le capitatum et l'hamatum et entre l'astragale et le naviculum sont présentes dans tous les cas, d'autres os du carpe et du tarse étant parfois intégrés dans la fusion), une syndactylie entre le 1<sup>er</sup> et le 2<sup>e</sup> doigts, une hypodactylie et une polydactylie des pieds et des anomalies acrales pouvant toucher le sternum et la colonne vertébrale lombo-sacrée (y compris saillie sternale avec pectus excavatum variable et spina bifida occulta lombosacré). Une syndactylie des tissus mous, une hypoplasie/dysplasie dentaire, une crête alvéolaire large et un palais arqué ont également été décrits chez certains patients."},"de":{"name":"Dysplasie, akro-pectoro-vertebrale","synonyms":["F-Syndrom"],"definition":"Eine seltene genetisch bedingte Skelettdysplasie, die durch Synostosen der Handwurzel und der Fußwurzel gekennzeichnet ist (Synostosen zwischen Capitatum und Hamatum sowie zwischen Talus und Navikular sind immer vorhanden, andere Handwurzel- und Fußwurzelknochen sind manchmal in die Fusion einbezogen), Syndaktylie zwischen erstem und zweitem Finger, Hypodaktylie und Polydaktylie der Füße und akrale Defekte, die das Sternum und die lumbosakrale Wirbelsäule einbeziehen können (einschließlich vorstehendes Sternum mit variablem Pectus excavatum und lumbosakraler Spina bifida occulta). Bei einigen Patienten wurden auch Weichteilsyndaktylie, Zahnhypoplasie/Dysplasie, ein breiter Alveolarkamm sowie ein hoher und schmaler Gaumen festgestellt."},"es":{"name":"Displasia acropectorovertebral","synonyms":["Síndrome F"],"definition":"Es una displasia esquelética de origen genético poco frecuente caracterizada por sinostosis del carpo y del tarso (la sinostosis entre el hueso grande y el ganchoso, y entre el astrágalo y el escafoides está presente en todos los casos; en ocasiones, se incorporan a la fusión otros huesos del carpo y del tarso), sindactilia del primer y segundo dedos de la mano, hipodactilia y polidactilia en los pies y defectos acros que pueden afectar al esternón y a la columna lumbosacra (incluyendo esternón prominente con pectus excavatum variable y espina bífida oculta lumbosacra). En algunos pacientes también se ha descrito sindactilia de partes blandas, hipoplasia/displasia dental, reborde alveolar amplio y paladar ojival."},"it":{"name":"Displasia acro-toraco-vertebrale","synonyms":["Disgenesia acro-toraco-vertebrale","Sindrome F"]},"nl":{"name":"Acropectorovertebrale dysplasie","synonyms":["F-syndroom"],"definition":"Een zeldzame genetische skeletdysplasie, gekenmerkt door synostose van handwortelbeentjes (os carpale) en voetwortelbeentjes (os tarsale) (synostose tussen os capitatum (hoofdvormig been) en os hamatum (haakvormig been), en tussen talus (sprongbeen) en os naviculare (scheepvormig voetwortelbeentje) zijn altijd aanwezig, overige hand- en voetwortelbeentjes maken soms deel uit van de fusie), syndactylie tussen eerste en tweede vingers, hypodactylie en polydactylie van voet, en acrale defecten met mogelijke betrokkenheid van sternum en lumbosacrale wervelkolom (waaronder prominerend borstbeen met variabele pectus excavatum (trechterborst) en lumbosacrale spina bifida occulta). Syndactylie van weke delen, dentale hypoplasie/dysplasie, brede processus alveolaris, en hoog en smal gehemelte werden ook reeds gerapporteerd bij sommige patiënten."},"pt":{"name":"Displasia acro-pecto-vertebral"},"pl":{"name":"Dysplazja kończynowo-piersiowo-kręgowa","synonyms":["Zespół F"]},"cs":{"name":"Akropektorovertebrální dysplázie","synonyms":["F syndrom"]},"uk":{"name":"Акропекторовертебральна дисплазія","synonyms":["F-синдром"],"definition":"A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)."},"zh":{"name":"肩胛脊柱发育不良","synonyms":["F综合征"]},"tr":{"name":"Akropektovertebral displazi","synonyms":["F sendromu"]}},"xrefs":[{"source":"OMIM","code":"102510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1013313909"},{"source":"MONDO","code":"0007058","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863307","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"512","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":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","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:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null}]}}