{"orpha":1834,"name":"Axial mesodermal dysplasia spectrum","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Blastogenesis defect","Russell-Weaver-Bull syndrome"],"definition":"Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1834/","orphanet_url":"https://www.orpha.net/en/disease/detail/1834","names":{"fr":{"name":"Dysplasie mésodermique axiale","synonyms":["Anomalies de la blastogenèse","Syndrome de Russell-Weaver-Bull"],"definition":"Un trouble rare du développement survenant pendant l'embryogenèse, se caractérisant par des manifestations congénitales du spectre oculo-auriculo-vertébral et une régression caudale. Le phénotype est très variable, mais les patients présentent habituellement une dysmorphie faciale (incluant une asymétrie, un hypertélorisme), des anomalies auriculaires (comme des appendices pré-auriculaires, une microtie, une absence d'osselets dans l'oreille moyenne), des malformations squelettiques (hémivertèbres, luxation de la hanche, agénésie/dysplasie sacrée, pieds bots varus équins, déformation en flexion des membres inférieurs), des troubles cardiaques (dextrocardie, anomalies septales), des anomalies rénales et génito-urinaires (telles qu'une agénésie/dysplasie rénale, des organes génitaux externes anormaux, une cryptorchidie), ainsi que des anomalies anales, comme une atrésie et une fistule vésicorectale."},"de":{"name":"Dysplasie, axiale mesodermale","synonyms":["Blastogeneseanomalien","Russell-Weaver-Bull-Syndrom"],"definition":"Ein seltener Entwicklungsdefekt während der Embryogenese, der durch kongenitale Manifestationen sowohl des okulo-aurikulo-vertebralen Spektrums als auch der kaudalen Regressionssequenz gekennzeichnet ist. Der Phänotyp ist sehr variabel, aber die Patienten präsentieren sich typischerweise mit Gesichtsdysmorphien (inkl. Asymmetrie, Hypertelorismus), Ohrmuschelanomalien (z.B.. präaurikuläre Tags, Mikrotie, Fehlen der Mittelohrknöchelchen), Skelettfehlbildungen (Halbwirbel, Hüftluxation, Sakralagenesie/-dysplasie, Klumpfüße, Flexionsdeformität der unteren Extremitäten), Herzfehler (Dextrokardie, Septumdefekte), Nieren- und Urogenitalanomalien (z. B. Nierenagenesie/Dysplasie, abnorme äußere Genitalien, Kryptorchismus) sowie Analanomalien wie Analatresie und Rektovesikusfistel."},"es":{"name":"Displasia mesodérmica axial","synonyms":["Anomalías de blastogénesis","Síndrome de Russell-Weaver-Bull"],"definition":"Es un síndrome poco frecuente de defectos del desarrollo embrionario caracterizado por manifestaciones congénitas tanto del espectro óculo-aurículo-vertebral como de la secuencia de regresión caudal. El fenotipo es muy variable, pero los afectados suelen presentar dismorfia facial (incluyendo asimetría, hipertelorismo), anomalías auriculares (p. ej., apéndices preauriculares, microtia, ausencia de huesecillos en el oído medio), malformaciones esqueléticas (hemivertebras, luxación de cadera, agenesia/displasia sacra, pie zambo, malformación por flexión de las extremidades inferiores), defectos cardíacos (dextrocardia, defectos septales), anomalías renales y genitourinarias (como agenesia / displasia renal, genitales externos anómalos, criptorquidia), así como anomalías anales tales como atresia anal y fístula rectovesical."},"it":{"name":"Displasia mesodermica assiale","synonyms":["Anomalie della blastogenesi","Sindrome di Russell-Weaver-Bull"],"definition":"La displasia mesodermica assiale è un difetto raro dello sviluppo dell'embrione, caratterizzato da sintomi congeniti a livello oculo-auricolo-vertebrale e dalla sequenza da regressione caudale. Il quadro clinico è molto variabile e di solito comprende dismorfismi facciali (asimmetria, ipertelorismo), anomalie auricolari (appendici preauricolari, microtia, aplasia degli ossicini dell'orecchio medio), malformazioni scheletriche (emivertebre, lussazione dell'anca, agenesia/displasia sacrale, piedi equino-vari, deformità in flessione degli arti inferiori), cardiopatie (destrocardia, difetti del setto), anomalie renali e genito-urinarie (agenesia/displasia renale, anomalie dei genitali esterni, criptorchidia) e anomalie anali (atresia e fistola retto-vescicale)."},"nl":{"name":"Axiale mesodermale dysplasie-spectrum","synonyms":["Blastogenesedefect","Syndroom van Russell-Weaver-Bull"],"definition":"Axiale mesodermale dysplasie-spectrum is een zeldzaam syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door congenitale manifestaties van zowel oculo-auriculo-vertebraal spectrum als caudale regressiesyndroom. Het fenotype varieert sterk maar patiënten vertonen gewoonlijk faciale dysmorfie (inclusief asymmetrie, hypertelorisme), auriculaire afwijkingen (e.g. pre-auriculaire aanhangsels, microtie, afwezigheid van gehoorbeentjes in het middenoor), skeletmalformaties (hemivertebrae, heupdislocatie, sacrale agenesie/dysplasie, talipes equinovarus, flexiemisvorming van de onderste ledematen), hartdefecten (dextrocardie, septumdefecten), renale en genito-urinaire anomalieën (zoals renale agenesie/dysplasie, abnormale uitwendige geslachtsorganen, cryptorchidie), alsook anale anomalieën zoals anusatresie en rectovesicale fistel."},"pt":{"name":"Espectro clínico de displasia mesodérmica axial","synonyms":["Síndrome Russell-Weaver-Bull"]},"pl":{"name":"Spektrum osiowej dysplazji mezodermalnej","synonyms":["Defekt blastogenezy","Zespół Russella, Weavera i Bulla"]},"cs":{"name":"Spektrum mezodermální axiální dysplázie","synonyms":["Porucha blastogeneze","Russellův-Weaverův-Bullův syndrom","Russell-Weaver-Bullův syndrom"]},"uk":{"name":"Спектр аксіальної мезодермальної дисплазії","synonyms":["Дефект бластогенезу","Синдром Рассела-Вівера-Булла"],"definition":"Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula."},"zh":{"name":"轴中胚层发育不良谱系","synonyms":["Russell-Weaver-Bull综合征"]},"tr":{"name":"Aksiyal mezodermal displazi spektrumu","synonyms":["Blastogenez defekti","Russell-Weaver-Bull sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015944","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931613","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"213","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7243441[PMID]_26949683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null}]}}