{"orpha":2215,"name":"Multiple pterygium-malignant hyperthermia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Froster-Iskenius-Waterson-Hall syndrome","Malignant hyperthermia-arthrogryposis-torticollis syndrome"],"definition":"An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2215/","orphanet_url":"https://www.orpha.net/en/disease/detail/2215","names":{"fr":{"name":"Syndrome des ptérygiums multiples-hyperthermie maligne","synonyms":["Syndrome d'hyperthermie maligne-arthrogrypose-torticolis","Syndrome de Froster-Iskenius-Waterson-Hall"],"definition":"Arthrogrypose syndromique extrêmement rare décrit à ce jour dans seulement deux fratries de deux familles non apparentées. La maladie est caractérisée par l'association d'arthrogrypose, d'un torticolis congénital, d'une dysmorphie faciale (à savoir, asymétrie du visage, mouvements faciaux myopathiques, ptosis, oreilles et inclinées vers l'arrière, fente palatine), de scoliose progressive et d'épisodes d'hyperthermie maligne. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Multiples Pterygium-maligne Hyperthermie-Syndrom","synonyms":["Froster-Iskenius-Waterson-Hall-Syndrom","Maligne Hyperthermie-Arthrogrypose-Torticollis-Syndrom"]},"es":{"name":"Síndrome de pterigium múltiple-hipertermia maligna","synonyms":["Síndrome de Froster-Iskenius-Waterson-Hall","Síndrome de hipertermia maligna-artrogriposis-tortícolis"],"definition":"Es un síndrome de artrogriposis muy poco frecuente descrito hasta la fecha en sólo dos parejas de hermanos de dos familias no relacionadas. Está caracterizado por la asociación de artrogriposis, tortícolis congénita, rasgos faciales dismórficos (es decir, rostro asimétrico, movimientos faciales miopáticos, ptosis, orejas rotadas posteriormente, paladar hendido), escoliosis progresiva y episodios de hipertermia maligna. No se han descrito más casos en la literatura desde 1988."},"it":{"name":"Ipertermia maligna - artrogriposi - torcicollo","synonyms":["Sindrome di Froster-Iskenius -Waterson"],"definition":"L'ipertermia maligna-artrogriposi-torcicollo è una sindrome da artrogriposi molto rara, descritta in due coppie di fratelli appartenenti a due famiglie non correlate; è caratterizzata dall'associazione tra artrogriposi, torcicollo congenito, dismorfismi facciali (asimmetria del volto, movimenti facciali miopatici, ptosi, orecchie ruotate posteriormente, palatoschisi), scoliosi progressiva ed episodi di ipertermia maligna. Gli ultimi casi descritti risalgono al 1988."},"nl":{"name":"Meervoudig pterygium - maligne hyperthermie-syndroom","synonyms":["Maligne hyperthermie - artrogrypose - torticollis-syndroom","Syndroom van Froster-Iskenius-Waterson-Hall"],"definition":"Maligne hyperthermie - artrogrypose - torticollis-syndroom is een uiterst zeldzaam artrogryposesyndroom dat tot op heden slechts werd beschreven in twee paren broers/zussen uit twee niet gerelateerde families, en dat gekarakteriseerd wordt door de associatie van artrogrypose, congenitale torticollis, dysmorfe gelaatskenmerken (i.e. asymmetrie van het gelaat, myopathische gezichtsbewegingen, ptose, naar achter gedraaide oren, gespleten verhemelte), progressieve scoliose en episodes met maligne hyperthermie. Sinds 1988 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome de pterígio múltiplo-hipertermia maligna","synonyms":["Síndrome Froster-Iskenius-Waterson","Síndrome de hipertermia maligna-artrogripose-torcicolo"]},"pl":{"name":"Zespół mnogich płetwistości i hipertermii złośliwej","synonyms":["Zespół Frostera, Iskeniusa i Watersona","Zespół hipertermii złośliwej, artrogrypozy i kręczu szyi"]},"cs":{"name":"Syndrom zahrnující maligní hypertermii, artrogrypózu a torticollis","synonyms":["Froster-Iskeniusové-Watersonův syndrom","Froster-Iskenius-Watersonův syndrom"]},"uk":{"name":"Синдром множинного птеригіуму-злоякісної гіпертермії","synonyms":["Синдром Фростера-Іскеніуса-Уотерсона-Холла","Синдром злоякісної гіпертермії-артрогрипозу-кривошиї"],"definition":"An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988."},"zh":{"name":"多发性翼状胬肉-恶性高热综合征","synonyms":["恶性高热-关节挛缩-斜颈综合征"]},"tr":{"name":"Çoklu pterjium-habis hipertermi sendromu","synonyms":["Froster-Iskenius-Waterson-Hall sendromu","Habis hipertermi-artrogripozis-tortikollis sendromu"]}},"xrefs":[{"source":"OMIM","code":"217150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304748","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3361","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]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":466658,"name":"Rare disease with malignant hyperthermia","classifications":[181]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3346884[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3346884[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-21","source":null,"terms":[{"hpo":"HP:0000277","label":"Abnormality of the mandible","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:0005988","label":"Congenital muscular torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012400","label":"Abnormal aldolase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011302","label":"Long palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012370","label":"Prominence of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100556","label":"Hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010733","label":"Naevus flammeus of the eyelid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040036","label":"Onychogryposis of fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001557","label":"Prenatal movement abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null}]}}