{"orpha":611223,"name":"EN1-related dorsoventral syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ENDOVE syndrome","ENDOVES"],"definition":"A rare mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611223/","orphanet_url":"https://www.orpha.net/en/disease/detail/611223","names":{"fr":{"name":"Syndrome dorsoventral lié à EN1","synonyms":["Syndrome ENDOVE"],"definition":"Dysplasie mésomélique et rhizo-mésomélique rare caractérisée par un raccourcissement mésomélique marqué des membres inférieurs, une syndactylie cutanée et des anomalies des ongles (placés sur la face palmaire du doigt, dysplasiques ou absents) des mains et des pieds en raison de mutations du gène <i>EN1</i>. Les autres caractéristiques cliniques peuvent comprendre des anomalies génito-urinaires (cryptorchidie bilatérale, reflux vésico-urétéral, hydronéphrose, hypoplasie des grandes lèvres), une spasticité et des convulsions."},"de":{"name":"EN1-assoziiertes dorsoventrales Syndrom","synonyms":["ENDOVES","Extremitätenfehlbildung, EN1-assoziierte","ENDOVE-Syndrom"],"definition":"Eine seltene mesomele und rhizo-mesomele Dysplasie, die durch eine ausgeprägte mesomele Verkürzung der unteren Gliedmaßen, kutane Syndaktylie und Nagelanomalien (auf der Palmar-Seite der Finger platziert, dysplastisch oder fehlend) in Händen und Füßen aufgrund von Mutationen im <i>EN1</i>-Gen gekennzeichnet ist. Weitere klinische Merkmale können Anomalien im Urogenitalbereich (einschließlich beidseitigem Kryptorchismus, vesiko-ureteralem Reflux, Hydronephrose, hypoplastischen großen Schamlippen), Spastizität und Krampfanfälle sein."},"es":{"name":"Síndrome dorsoventral asociado al gen EN1","synonyms":["ENDOVES","Síndrome ENDOVE"],"definition":"Es una displasia mesomélica y rizomesomélica poco frecuente caracterizada por un marcado acortamiento mesomélico de las extremidades inferiores, sindactilia cutánea y anomalías ungueales (ubicadas en la superficie palmar del dedo, displásicas o ausentes) en manos y pies debido a mutaciones en el gen <i>EN1</i>. Otras características clínicas pueden incluir anomalías genitourinarias (incluyendo criptorquidia bilateral, reflujo vesicoureteral, hidronefrosis, labios mayores hipoplásicos), espasticidad y crisis epilépticas."},"it":{"name":"Sindrome dorsoventrale correlata a EN1","synonyms":["ENDOVES","Sindrome ENDOVE"]},"nl":{"name":"EN1-gerelateerd dorsoventraal syndroom","synonyms":["ENDOVE-syndroom","ENDOVES"],"definition":"Een zeldzame mesomele en rhizomesomele dysplasie, gekenmerkt door opmerkelijke mesomele verkorting van onderste ledematen, cutane syndactylie en nagelanomalieën (gesitueerd op de palmaire zijde van de vinger, dysplastisch of afwezig) aan handen en voeten door mutaties in het gen <i>EN1</i>. Mogelijke andere klinische kenmerken zijn onder meer urogenitale afwijkingen (waaronder bilateraal cryptorchisme, vesico-ureterale reflux, hydronefrose, hypoplastische grote schaamlippen), spasticiteit en insulten."},"pt":{"name":"Síndrome dorsoventral EN1-relacionado","synonyms":["ENDOVES","Síndrome ENDOVE"],"definition":"Displasia mesomélica e rizo-mesomélica rara caracterizada por encurtamento mesomélico acentuado dos membros inferiores, sindactilia cutânea e anomalias nas unhas (localizadas no lado palmar do dedo, displásicas ou ausentes) nas mãos e pés devido a mutações no gene EN1. Outras características clínicas podem incluir anomalias geniturinárias (incluindo criptorquidia bilateral, refluxo vesicoureteral, hidronefrose, lábios maiores hipoplásicos), espasticidade e convulsões."},"pl":{"name":"Zespół grzietowo-brzuszny związany z EN1","synonyms":["ENDOVE syndrome","ENDOVES"],"definition":"Rzadka dysplazja mezomeliczna i rizo-mezomeliczna charakteryzująca się znacznym mezomelicznym skróceniem kończyn dolnych, skórną syndaktylią i nieprawidłowościami paznokci (zlokalizowanymi po stronie dłoniowej palca, dysplastycznymi lub ich brakiem) w dłoniach i stopach, związana z mutacjami w genie EN1. Inne cechy kliniczne mogą obejmować nieprawidłowości układu moczowo-płciowego (w tym obustronne wnętrostwo, odpływ pęcherzowo-moczowodowy, wodonercze, hipoplastyczne wargi sromowe większe), spastyczność i drgawki."},"cs":{"name":"Dorzoventrální syndrom související s EN1","synonyms":["ENDOVE syndrome","ENDOVES"]},"uk":{"name":"Дорсовентральний синдром, повязаний з EN1","synonyms":["Синдром ENDOVE","ENDOVES"],"definition":"A rare mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures."}},"xrefs":[{"source":"OMIM","code":"619217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619218","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"1040032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680225","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"33568816[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33568816[PMID]_ORPHANET"}],"phenotypes":null}