{"orpha":2990,"name":"Autosomal recessive multiple pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive non-lethal multiple pterygium syndrome","EVMPS","Escobar syndrome","Escobar variant multiple pterygium syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2990/","orphanet_url":"https://www.orpha.net/en/disease/detail/2990","names":{"fr":{"name":"Syndrome des ptérygiums multiples autosomique récessif","synonyms":["EVMPS","Syndrome d'Escobar","Syndrome des ptérygiums multiples autosomique récessif non létal"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique, caractérisé par une ptérygie congénitale (sangle) affectant principalement le cou et les grosses articulations, une arthrogrypose multiple, une petite taille et une dysmorphie craniofaciale (y compris un ptosis, des fentes palpébrales inclinées vers le bas, un palais ogival et une rétrognathie). Parmi les autres manifestations figurent des mouvements réduits, une faiblesse faciale, une détresse respiratoire, des anomalies vertébrales, une scoliose, des anomalies des doigts et une cryptorchidie, entre autres. La maladie est une forme non létale du syndrome du ptérygion multiple."},"de":{"name":"Multiples Pterygium-Syndrom, autosomal-rezessives","synonyms":["Autosomal-rezessives multiples Pterygium-Syndrom, nicht-letal","EVMPS","Escobar-Syndrom","Multiples Pterygium-Syndrom, Escobar-Variante"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch eine angeborene Pterygie ('Stegbildung'), die hauptsächlich den Hals und die großen Gelenke betrifft, Arthrogryposis multiplex, Kleinwuchs und kraniofaziale Dysmorphien (einschließlich Ptosis, schräg abwärts verlaufende Lidspalten, hochgewölbter Gaumen und Retrognathie) gekennzeichnet ist. Weitere Erscheinungsformen sind u. a. Bewegungseinschränkungen, Schwäche der Fazialmuskeln, Atemnot, Wirbelsäulenanomalien, Skoliose, Anomalien der Finger und Kryptorchismus. Die Krankheit ist eine nicht tödliche Variante des multiplen Pterygium-Syndroms."},"es":{"name":"Síndrome de pterigium múltiple autosómico recesivo","synonyms":["EVMPS","Síndrome de Escobar","Síndrome de pterigium múltiple autosómico recesivo no letal","Síndrome de pterigium múltiple variante de Escobar"],"definition":"Es un síndrome dismórfico/ con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por pterigium (pliegues) congénito que afecta principalmente al cuello y a las grandes articulaciones, artrogriposis múltiple, talla baja y dismorfia craneofacial (incluyendo ptosis, fisuras palpebrales descendentes, paladar ojival y retrognatia). Otras manifestaciones incluyen disminución de los movimientos, debilidad facial, dificultad respiratoria, anomalías vertebrales, escoliosis, anomalías de los dedos de las manos y criptorquidia, entre otras. La enfermedad es una variante no letal del síndrome de pterigium múltiple."},"it":{"name":"Sindrome da pterigi multipli, autosomica recessiva","synonyms":["EVMPS","Sindrome da pterigi multipli non letale, autosomica recessiva","Sindrome da pterigi multipli, variante di Escobar","Sindrome di Escobar"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da pterigi (pliche) congeniti che interessano principalmente il collo e le grandi articolazioni, artrogriposi multipla, bassa statura e dismorfismi craniofacciali (ptosi, rime palpebrali oblique verso il basso, palato ogivale e retrognazia). I pazienti possono presentare anche una limitazione dei movimenti, debolezza facciale, distress respiratorio, anomalie delle vertebre, scoliosi, anomalie delle dita e criptorchidismo. La malattia è una variante non letale della sindrome da pterigi multipli."},"nl":{"name":"Autosomaal recessief multipele pterygium-syndroom","synonyms":["Autosomaal recessief niet-letaal multipele pterygium-syndroom","EVMPS","Multipele pterygium-syndroom, Escobar-variant","Syndroom van Escobar"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door congenitaal pterygium ('webbing') dat vooral hals en grote gewrichten aantast, arthrogryposis multiplex, kleine gestalte, en craniofaciale dysmorfie (met onder meer ptosis, schuin naar beneden hellende ooglidspleten, hoog gebogen gehemelte, en retrognathie). Bijkomende manifestaties zijn onder meer verminderde bewegingen, zwakte van aangezichtsspieren, ademnood, vertebrale anomalieën, scoliose, anomalieën van vingers, en cryptorchisme. De ziekte is een niet-letale variant van meervoudig pterygium-syndroom."},"pt":{"name":"Síndrome de pterígio múltiplo autossómica recessiva","synonyms":["EVMPS","Síndrome Escobar","Síndrome de pterígio múltiplo não letal autossómica recessiva","Síndrome de pterígio múltiplo variante Escobar"]},"pl":{"name":"Autosomalny recesywny zespół mnogich płetwistości","synonyms":["Autosomalny recesywny nieletalny zespół mnogich płetwistości","EVMPS","Zespół Escobara","Zespół mnogich płetwistości wariant Escobara"]},"cs":{"name":"Autozomálně recesivní syndrom mnohočetných pterygií","synonyms":["EVMPS","Autozomálně recesivní nonletální syndrom mnohočetných pterygií","Escobarův syndrom","Escobarova varianta syndromu mnohočetných pterygií"]},"uk":{"name":"Аутосомно-рецесивний синдром множинні птеригії","synonyms":["Аутосомно-рецесивний нелетальний синдром множинної птеригії","Синдром Ескобара","Синдром множинних птеригіумів за варіантом Ескобара","EVMPS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome."},"zh":{"name":"常染色体隐性遗传多灶性翼状胬肉综合征","synonyms":["常染色体隐性遗传性非致死性多发性翼状胬肉综合征"]},"tr":{"name":"Otozomal resesif çoklu piterjiyum sendromu","synonyms":["EVMPS","Escobar sendromu","Çoklu piterjiyum sendromu, Escobar varyantı","Otozomal çekinik letal olmayan çoklu piterjiyum sendromu"]}},"xrefs":[{"source":"OMIM","code":"265000","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618469","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1502158121"},{"source":"MONDO","code":"0009926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265261","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7111","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":294060,"name":"Multiple pterygium syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"CHRNG","name":"cholinergic receptor nicotinic gamma subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22167768[PMID]","hgnc":"1967","ensembl":"ENSG00000196811","omim":"100730","loci":["2q37.1"]},{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29805041[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30868735[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":64.0,"area":"Worldwide","status":"Validated","source":"30868735[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009760","label":"Antecubital pterygium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001060","label":"Axillary pterygia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001040","label":"Multiple pterygia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009756","label":"Popliteal pterygium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008729","label":"Absence of labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}