{"orpha":994,"name":"Fetal akinesia deformation sequence","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome","FADS","Pena-Shokeir syndrome type 1"],"definition":"The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-994/","orphanet_url":"https://www.orpha.net/en/disease/detail/994","names":{"fr":{"name":"Séquence d'akinésie foetale","synonyms":["Syndrome d'arthrogrypose multiple congénitale-hypoplasie pulmonaire","Syndrome de Pena-Shokeir type 1"],"definition":"La séquence d'akinésie foetale est évoquée devant une arthrogrypose avec ankylose de toutes les articulations des membres, camptodactylie, le tout associé à une hypoplasie pulmonaire et à une dysmorphie faciale. Il s'agit d'une séquence dont le premier élément est l'immobilité foetale, quelle qu'en soit la cause."},"de":{"name":"Fetale Akinesie/Hypokinesie-Sequenz","synonyms":["Arthrogryposis multiplex congenita mit Lungenhypoplasie","FADS","Pena-Shokeir-Syndrom Typ 1"],"definition":"Symptome der Fetalen Akinesie/Hypokinesie-Sequenz (oder Pena-Shokeir-Syndrom Typ I) sind multiple Gelenk-Kontrakturen, Gesichtsanomalien und Lungenhypoplasie. Unabhängig von der Grunderkrankung sind alle diese Zeichen die Folge verminderter motorischer Aktivität des Foeten."},"es":{"name":"Secuencia deformante de aquinesia fetal","synonyms":["Artrogriposis múltiple congénita-hipoplasia pulmonar","FADS","Síndrome de Pena-Shokeir tipo 1"],"definition":"La secuencia de aquinesia/hipoquinesia fetal (o síndrome de Pena-Shokeir tipo I) incluye contracturas articulares múltiples, anomalías faciales e hipoplasia pulmonar. Sea cual sea la causa, el rasgo común de esta secuencia es la disminución de la actividad fetal."},"it":{"name":"Sequenza dell'acinesia fetale","synonyms":["Artrogriposi multipla congenita - ipoplasia polmonare","FADS","Sindrome di Pena-Shokeir, tipo 1"]},"nl":{"name":"Foetale akinesie - deformatie-sequentie","synonyms":["Arthrogryposis multiplex congenita - pulmonale hypoplasie-syndroom","FADS","Syndroom van Pena-Shokeir type 1"],"definition":"Foetale akinesie/hypokinesie-sequentie (of syndroom van Pena-Shokeir type I) wordt gekenmerkt door multipele gewrichtscontracturen, faciale anomalieën, en pulmonale hypoplasie. Ongeacht de oorzaak zijn al deze kenmerken van de sequentie het gevolg van verminderde foetale activiteit."},"pt":{"name":"Sequência de deformação de acinesia fetal"},"pl":{"name":"Sekwencja deformacyjna akinazji płodu","synonyms":["Artrogrypoza - hipoplazja płuc","FADS","Zespół Pena i Shokeira typu 1"]},"cs":{"name":"Deformace plodu způsobené akinezí/nehybností","synonyms":["Syndrom zahrnující artrogryposis multiplex congenita a pulmonální hypoplázii","FADS","Penaův-Shokeirův syndrom, typ 1","Pena-Shokeirův syndrom, typ 1"]},"uk":{"name":"Послідовність деформації акінезії плода","synonyms":["Синдром множинного артрогрипозу-вродженої легеневої гіпоплазії","FADS","Синдром Пена-Шокіра, тип 1"],"definition":"The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity."},"zh":{"name":"胎儿运动迟缓/运动减退序列","synonyms":["关节挛缩多发性先天性-肺发育不全综合征"]},"tr":{"name":"Fetal akinezi deformasyon dizisi","synonyms":["FADS","Pena-Shokeir sendromu tip 1","Artrogripozis multipleks konjenita-pulmoner hipoplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"208150","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300073","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617194","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618388","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618389","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618393","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618975","qualifier":"ND","icd_relation":null,"validated":false},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1322694139"},{"source":"MONDO","code":"100101","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1276035","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9634","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":995,"name":"X-linked fetal akinesia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[156]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[{"symbol":"DOK7","name":"docking protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19261599[PMID]","hgnc":"26594","ensembl":"ENSG00000175920","omim":"610285","loci":["4p16.3"]},{"symbol":"KIF21A","name":"kinesin family member 21A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34740919[PMID]","hgnc":"19349","ensembl":"ENSG00000139116","omim":"608283","loci":["12q12"]},{"symbol":"MUSK","name":"muscle associated receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25612909[PMID]_25537362[PMID]","hgnc":"7525","ensembl":"ENSG00000030304","omim":"601296","loci":["9q31.3"]},{"symbol":"MYOD1","name":"myogenic differentiation 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26733463[PMID]","hgnc":"7611","ensembl":"ENSG00000129152","omim":"159970","loci":["11p15.1"]},{"symbol":"NUP88","name":"nucleoporin 88","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30543681[PMID]","hgnc":"8067","ensembl":"ENSG00000108559","omim":"602552","loci":["17p13.2"]},{"symbol":"RAPSN","name":"receptor associated protein of the synapse","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18179903[PMID]","hgnc":"9863","ensembl":"ENSG00000165917","omim":"601592","loci":["11p11.2"]},{"symbol":"GLDN","name":"gliomedin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32812332[PMID]","hgnc":"29514","ensembl":"ENSG00000186417","omim":"608603","loci":["15q21.2"]},{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26365340[PMID]","hgnc":"6814","ensembl":"ENSG00000254585","omim":"605283","loci":["15q11.2"]},{"symbol":"SLC18A3","name":"solute carrier family 18 member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31059209[PMID]","hgnc":"10936","ensembl":"ENSG00000187714","omim":"600336","loci":["10q11.23"]},{"symbol":"TUBA1A","name":"tubulin alpha 1a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35686685[PMID]","hgnc":"20766","ensembl":"ENSG00000167552","omim":"602529","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001989","label":"Fetal akinesia sequence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005245","label":"Intestinal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null}]}}