{"orpha":1150,"name":"Arthrogryposis multiplex congenita-whistling face syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Illum syndrome"],"definition":"An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1150/","orphanet_url":"https://www.orpha.net/en/disease/detail/1150","names":{"fr":{"name":"Syndrome d'arthrogrypose multiple congénitale-face de siffleur","synonyms":["Syndrome d'Illum"],"definition":"Type extrêmement rare d'arthrogrypose multiple congénitale caractérisé par l'association de multiples contractures articulaires avec restriction des mouvements, une microstomie et un aspect dit siffleur de la bouche pouvant entraîner des difficultés d'alimentation, de déglutition et d'élocution, un faciès caractéristique, dépourvu d'expression, un retard de développement sévère, un dysfonctionnement du système nerveux central et autonome (salivation excessive, instabilité de la température, crises d'épilepsie myocloniques, bradycardie), parfois une séquence de Pierre-Robin. Les patients décèdent généralement au cours des premiers mois de la vie. L'arthrogrypose multiple congénitale - face de siffleur est considérée comme étant une séquence malformative d'akinésie foetale."},"de":{"name":"Arthrogryposis multiplex congenita-Whistling-face-Syndrom","synonyms":["Illum-Syndrom"]},"es":{"name":"Síndrome de artrogriposis múltiple congénita-cara de silbido","synonyms":["Síndrome de Illum"],"definition":"Es un tipo de artrogriposis múltiple congénita extremadamente infrecuente caracterizado por la combinación de contracturas articulares múltiples con una restricción del movimiento, microstomía con boca en carpa que puede causar dificultades para comer, tragar y hablar, facies inexpresiva, retraso grave del desarrollo, disfunción del sistema nervioso central y autónomo (salivación excesiva, desregulación de la temperatura corporal, crisis epilépticas mioclónicas, bradicardia), ocasionalmente la secuencia de Pierre-Robin, y una mortalidad que, por lo general, se produce durante los primeros meses de vida. Se piensa que el síndrome de artrogriposis múltiple congénita-cara de silbido es una secuencia deformante de aquinesia fetal."},"it":{"name":"Artrogriposi multipla congenita - faccia da fischiatore","definition":"La sindrome da artrogriposi multipla congenita con faccia da fischiatore è una forma molto rara di artrogriposi, caratterizzata dall'associazione tra contratture articolari multiple con limitazione dei movimenti, microstomia con bocca ''da fischiatore'', che può causare difficoltà nell'alimentazione, nella deglutizione e nel linguaggio, un viso caratteristicamente inespressivo, un grave ritardo dello sviluppo, anomalie del sistema nervoso centrale e autonomo (salivazione eccessiva, temperatura instabile, crisi epilettiche di tipo mioclonico, bradicardia) e, raramente, la sequenza di Pierre-Robin e la letargia, che di solito esordiscono nei primi mesi di vita. La maggior parte dei casi sono sporadici ma è dimostrato che la sindrome è dovuta ad una mutazione del gene MYH3, che codifica per la catena pesante della miosina scheletrica embrionale 1, sul cromosoma17p13. I rari casi di ricorrenza familiare compatibili con un modello di trasmissione autosomica recessiva probabilmente sono riconducibili a mosaicismi germinali."},"nl":{"name":"Arthrogryposis multiplex congenita - fluitmond-syndroom","synonyms":["Syndroom van Illum"],"definition":"Een uiterst zeldzaam type van arthrogryposis multiplex congenita, gekarakteriseerd door de combinatie van meervoudige gewrichtscontracturen met bewegingsbeperking, microstomie met een fluitmond die kan leiden tot eet-, slik- en spraakproblemen, een typisch uitdrukkingsloos gelaat, ernstige ontwikkelingsachterstand, disfunctie van centraal en autonoom zenuwstelsel (overmatige speekselvorming, instabiele lichaamstemperatuur, myoclonische epileptische aanvallen, bradycardie), soms sequentie van Pierre-Robin, en overlijden, doorgaans tijdens de eerste levensmaanden. Arthrogryposis multiplex congenita - fluitmond-syndroom is vermoedelijk een foetale akinesie-deformatiesequentie."},"pt":{"name":"Síndrome de artrogripose múltipla congénita-face em assobio","synonyms":["Síndrome Illum"]},"pl":{"name":"Arteogrypoza - gwiżdżąca twarz","synonyms":["Zespół Illum"]},"cs":{"name":"Syndrom zahrnující arthrogryposis multiplex congenita a whistling face","synonyms":["Illumův syndrom"]},"uk":{"name":"Синдром множинного вродженого артрогрипозу та свистячого обличчя","synonyms":["Синдром Іллюма"],"definition":"An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence."},"zh":{"name":"先天性多发关节弯曲-吹口哨面容综合征","synonyms":["Illum综合征"]},"tr":{"name":"Artrogripozis multipleks konjenita Whistling-Face sendromu","synonyms":["İllum sendromu"]}},"xrefs":[{"source":"OMIM","code":"208155","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"210291070"},{"source":"MONDO","code":"0008825","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859711","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"792","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":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000346","label":"Whistling appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}