{"orpha":2588,"name":"Myhre syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Facial dysmorphism-intellectual disability-short stature-deafness syndrome","Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome","Myhre-LAPS syndrome","Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2588/","orphanet_url":"https://www.orpha.net/en/disease/detail/2588","names":{"fr":{"name":"Syndrome de Myhre","synonyms":["Syndrome de Myhre-LAPS","Syndrome de Myhre-sténose laryngotrachéale-arthropathie-prognathisme-petite taille","Syndrome de dysmorphie faciale-déficience intellectuelle-petite taille-surdité"],"definition":"Syndrome rare d'anomalies congénitales multiples, caractérisé par une petite taille, une dysmorphie faciale caractéristique, une brachydactylie, une peau épaissie d'aspect cartonné, une pseudohypertrophie musculaire, une raideur articulaire, une hypoacousie et une déficience intellectuelle variable. Les atteintes cardiovasculaires et respiratoires sont fréquentes."},"de":{"name":"Myhre-Syndrom","synonyms":["Gesichtsdysmorphie-Intelligenzminderung-Kleinwuchs-Hörverlust-Syndrom","Myhre-LAPS-Syndrom","Myhre-Laryngotracheale Stenose-Arthropathie-Progenie-Kleinwuchs-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch Kleinwuchs, ausgeprägte Gesichtsdysmorphien, Brachydaktylie, steife und dicke Haut, muskuläre Pseudohypertrophie, eingeschränkte Gelenkbeweglichkeit, Schwerhörigkeit und variable Intelligenzminderung gekennzeichnet ist. Kardiovaskuläre und respiratorische Probleme sind häufig."},"es":{"name":"Síndrome de Myhre","synonyms":["Síndrome de Myhre-LAPS","Síndrome de Myhre-estenosis laringotraqueal-artropatía-prognatismo-talla baja","Síndrome de dismorfia facial-discapacidad intelectual-talla baja-hipoacusia","Síndrome de dismorfia facial-discapacidad intelectual-talla baja-sordera"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por talla baja, dismorfia facial distintiva, braquidactilia, piel rígida y gruesa, pseudohipertrofia muscular, restricción de la movilidad articular, hipoacusia y discapacidad intelectual variable. Es frecuente la afectación cardiovascular y respiratoria."},"it":{"name":"Sindrome di Myhre","synonyms":["Sindrome dismorfismi facciali-disabilità intellettiva-bassa statura-sordità","Sindrome dismorfismi facciali-disabilità intellettiva-bassa statura-perdita dell'udito","Sindrome di Myhre- LAPS","Sindrome di Myhre-stenosi laringotracheale-artropatia-prognatismo-bassa statura","Dismorfismi facciali - deficit cognitivo - bassa statura - perdita dell'udito"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da bassa statura, dismorfismi facciali tipici, brachidattilia, cute rigida e spessa, pseudoipertrofia muscolare, limitazione della mobilità articolare, sordità e disabilità intellettiva variabile. Sono comuni il coinvolgimento cardiovascolare e respiratorio."},"nl":{"name":"Syndroom van Myhre","synonyms":["Faciale dysmorfie - intellectuele achterstand - kleine gestalte - doofheid-syndroom","Faciale dysmorfie - intellectuele achterstand - kleine gestalte - gehoorverlies-syndroom","Myhre - laryngotracheale stenose - artropathie - prognathie - kleine gestalte-syndroom","Myhre-LAPS syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door kleine gestalte, typerende faciale dysmorfie, brachydactylie, stijve en dikke huid, musculaire pseudohypertrofie, beperkte gewrichtsmobiliteit, gehoorverlies, en variabele intellectuele achterstand. Cardiovasculaire en respiratoire betrokkenheid zijn gangbaar."},"pt":{"name":"Síndrome Myhre","synonyms":["Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-baixa estatura-perda auditiva","Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-baixa estatura-surdez"]},"pl":{"name":"Zespół Myhre","synonyms":["Dysmorfia twarzy - niepełnosprawność intelektualna - niski wzrost - utrata słuchu"]},"cs":{"name":"Myhreův syndrom","synonyms":["Syndrom zahrnující faciální dysmorfismus, mentální retardaci, krátký vzrůst a ztrátu sluchu"]},"uk":{"name":"Синдром Міхре","synonyms":["Дисморфізм обличчя-інтелектуальна неповносправність-низький зріст-глухота","Синдром дисморфізму обличчя-інтелектуальної недостатності-низькорослості- втрати слуху"],"definition":"A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common."},"zh":{"name":"Myhre综合征","synonyms":["面部畸形-智力障碍-身材矮小-听力损失综合征"]},"tr":{"name":"Myhre sendromu","synonyms":["Fasiyal dismorfizm-zihinsel yetersizlik-kısa boy-sağırlık sendromu","Fasiyal dismorfizm-zihinsel yetersizlik-kısa boy-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"139210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007688","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537620","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796081","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2572","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SMAD4","name":"SMAD family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22243968[PMID]_22158539[PMID]_24398790[PMID]_24715504[PMID]_24580733[PMID]","hgnc":"6770","ensembl":"ENSG00000141646","omim":"600993","loci":["18q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"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_28406602[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-05","source":null,"terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030690","label":"Gingival cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Occasional (29-5%)","criteria":null}]}}