{"orpha":53696,"name":"Arthrogryposis-anterior horn cell disease syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AAHD","Vuopala disease"],"definition":"A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53696/","orphanet_url":"https://www.orpha.net/en/disease/detail/53696","names":{"fr":{"name":"Syndrome d'arthrogrypose-maladie de la corne antérieure","synonyms":["Maladie de Vuopala"],"definition":"Arthrogrypose rare, caractérisée par l'association d'une arthrogrypose multiple congénitale et d'une forme sévère de maladie du motoneurone avec perte de cellules de la corne antérieure dans la moelle épinière. Les patients présentent une séquence d'akinésie foetale, accompagnée de multiples contractures et d'anomalies du visage à type d'oreilles d'implantation basse, d'hypoplasie de la mâchoire et de cou court, ainsi que d'une hypotonie et d'une insuffisance respiratoire. Certains patients ne survivent pas au-delà de l'enfance et présentent un retard de développement, une perte marquée de masse musculaire, des mouvements involontaires et dystoniques, une ataxie et un trouble du langage."},"de":{"name":"Arthrogrypose-anteriore Hornzellkrankheit-Syndrom","synonyms":["AAHD","Vuopala-Krankheit"],"definition":"Ein seltenes Arthrogryposis-Syndrom, das durch die Assoziation von Arthrogryposis multiplex congenita und einer schweren Form der Motoneuronenerkrankung mit Verlust von Vorderhornzellen im Rückenmark gekennzeichnet ist. Die Patienten weisen eine fetale Akinesie-Deformationssequenz mit multiplen Kontrakturen und Gesichtsanomalien wie tief angesetzten Ohren, hypoplastischem Kiefer und kurzem Hals sowie Hypotonie und Ateminsuffizienz auf. Einige Patienten können bis ins Kindesalter hinein überleben und Entwicklungsverzögerungen, eine deutlich verminderte Muskelmasse, dystone und unwillkürliche Bewegungen, Ataxie und Sprachstörungen aufweisen."},"es":{"name":"Síndrome de artrogriposis-enfermedad de las células del cuerno anterior","synonyms":["Enfermedad de Vuopala"],"definition":"Es un síndrome poco frecuente de artrogriposis caracterizado por la asociación de artrogriposis múltiple congénita y una forma grave de enfermedad de la motoneurona con pérdida de células del cuerno anterior en la médula espinal. Los pacientes presentan una secuencia de deformación acinésica fetal con múltiples contracturas y anomalías faciales, como orejas de implantación baja, hipoplasia mandibular y cuello corto, así como hipotonía e insuficiencia respiratoria. Algunos pacientes pueden sobrevivir hasta la infancia y muestran un retraso del desarrollo, una marcada disminución de la masa muscular, movimientos distónicos e involuntarios, ataxia y trastornos del habla."},"it":{"name":"Sindrome artrogriposi-malattia delle cellule delle corna anteriori","synonyms":["Malattia di Vuopala"],"definition":"Si tratta di un'artrogriposi multipla congenita associata ad una forma grave di malattia dei motoneuroni con perdita delle cellule delle corna anteriori del midollo spinale. I pazienti presentano una sequenza di acinesia fetale con contratture multiple e dismorfismi facciali (orecchie a basso impianto, ipoplasia della mascella e collo corto), ipotonia e insufficienza respiratoria. I pazienti che sopravvivono fino all'infanzia presentano ritardo dello sviluppo, ipotrofia muscolare marcata, movimenti distonici e involontari, atassia e deficit del linguaggio."},"nl":{"name":"Artrogrypose - voorhoornaandoening-syndroom","synonyms":["AAHD","Ziekte van Vuopala"],"definition":"Een zeldzaam syndroom van artrogrypose, gekenmerkt door de associatie van arthrogryposis multiplex congenita en een ernstige vorm van motorneuronziekte met verlies van voorhoorncellen in ruggenmerg. Patiënten presenteren zich met foetale akinesie - deformatie-sequentie met multipele contracturen en faciale anomalieën, zoals laagstaande oren, hypoplastische kaak en korte hals, alsook hypotonie en respiratoire insufficiëntie. Sommige patiënten kunnen overleven tot in de kindertijd, en vertonen ontwikkelingsachterstand, duidelijke afname van de spiermassa, dystone en onvrijwillige bewegingen, ataxie, en ondermaatse spraak."},"pt":{"name":"Artrogripose - doença das células dos cornos anteriores da medula, letal","synonyms":["Doença de Vuopala"]},"pl":{"name":"Śmiertelna artrogrypoza - choroba komórek rogu przedniego","synonyms":["Choroba Vuopala","LAAHD"]},"cs":{"name":"Syndrom zahrnující letální artrogrypózu a nemoc buněk předních míšních rohů","synonyms":["LAAHD","Vuopalové nemoc"]},"uk":{"name":"Синдром артрогрипозу-хвороби клітин переднього рогу","synonyms":["AAHD","Хвороба Вуопала"],"definition":"A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech."},"zh":{"name":"关节挛缩-前角细胞病综合征","synonyms":["Vuopala病"]},"tr":{"name":"Artrogripozis-ön boynuz hücre hastalığı sendromu","synonyms":["AAHD","Vuopala hastalığı"]}},"xrefs":[{"source":"OMIM","code":"611890","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1985591471"},{"source":"MONDO","code":"0012750","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678471","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]}],"children":[],"genes":[{"symbol":"GLE1","name":"GLE1 RNA export mediator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18204449[PMID]","hgnc":"4315","ensembl":"ENSG00000119392","omim":"603371","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"7821908[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"7821908[PMID]_ORPHANET"}],"phenotypes":null}