{"orpha":2502,"name":"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome"],"definition":"A rare multiple metaphyseal dysplasia syndrome characterized by metaphyseal dysplasia, short-limb dwarfism (more pronounced in the lower limbs), mild intellectual deficiency and conductive hearing loss that is associated with repeated episodes of otitis media in childhood. Patients usually present with short and cupped ribs, short and broad hands and finger joint laxity. Hyperopia, strabismus, anterior polar cataract, scoliosis, lumbar lordosis and brachydactyly may also be present. There have been no further descriptions in the literature since 1971.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2502/","orphanet_url":"https://www.orpha.net/en/disease/detail/2502","names":{"fr":{"name":"Syndrome de dysostose métaphysaire-déficience intellectuelle-surdité","definition":"Syndrome rare de dysplasie métaphysaire multiple caractérisé par une dysplasie métaphysaire, un nanisme à membres courts (plus prononcé dans les membres inférieurs), une déficience intellectuelle légère et une surdité de transmission associée à des épisodes d'otite moyenne survenant de manière récurrente dans l'enfance. Les patients présentent généralement des côtes courtes et bombées, des mains courtes et larges et une laxité articulaire des doigts. Une hypermétropie, un strabisme, une cataracte polaire antérieure, une scoliose, une lordose lombaire et une brachydactylie peuvent également être présents. Aucun nouveau cas n'a été décrit dans la littérature depuis 1971."},"de":{"name":"Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom","definition":"Eine seltene syndromale Knochendysplasie, die durch metaphysäre Dysplasie, Kleinwuchs der Gliedmaßen (stärker ausgeprägt in den unteren Gliedmaßen), leichte intellektuelle Defizite und Schallleitungsschwerhörigkeit gekennzeichnet ist und mit wiederholten Episoden von Otitis media in der Kindheit einhergeht. Die Patienten weisen in der Regel kurze und schalenförmige Rippen, kurze und breite Hände und eine Gelenkhypermobilität der Finger auf. Hyperopie, Strabismus, anteriorer polarer Katarakt, Skoliose, Lendenlordose und Brachydaktylie können ebenfalls vorhanden sein. Seit 1971 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de disostosis metafisaria-discapacidad intelectual-sordera conductiva","synonyms":["Síndrome de disostosis metafisaria-discapacidad intelectual-hipoacusia conductiva"],"definition":"Es un síndrome de displasia metafisaria múltiple poco frecuente, caracterizado por displasia metafisaria, talla baja significativa con acortamiento de extremidades (más pronunciado en las extremidades inferiores), deficiencia intelectual leve e hipoacusia conductiva asociada a episodios repetidos de otitis media en la infancia. Los pacientes suelen presentar costillas cortas y con el extremo en copa, manos cortas y anchas, y laxitud en las articulaciones de los dedos. También puede asociar hipermetropía, estrabismo, catarata polar anterior, escoliosis, lordosis lumbar y braquidactilia. No se han descrito más casos en la literatura desde 1971."},"it":{"name":"Sindrome da disostosi metafisaria-disabilità intellettiva-sordità di conduzione","synonyms":["Disostosi metafisaria-disabilità intellettiva-sordità di conduzione"]},"nl":{"name":"Metafysaire dysostose - intellectuele achterstand - conductieve doofheid-syndroom","synonyms":["Metafysaire dysostose - intellectuele achterstand - conductief gehoorverlies-syndroom"],"definition":"Een zeldzaam syndroom van multipele metafysaire dysplasie, gekenmerkt door metafysaire dysplasie, dwerggroei met korte ledematen (meer uitgesproken in de onderste ledematen), milde intellectuele deficiëntie, en conductief gehoorverlies dat is geassocieerd met herhaaldelijke episodes van middenoorontsteking in de kindertijd. Patiënten presenteren zich meestal met korte en komvormige ribben, korte en brede handen, en gewrichtslaxiteit van de vingers. Hyperopie, strabisme, anterieur polair cataract, scoliose, lumbale lordose, en brachydactylie kunnen ook aanwezig zijn. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de disostose metafisária-perturbação do desenvolvimento intelectual-surdez de transmissão","synonyms":["Síndrome de disostose metafisária-perturbação do desenvolvimento intelectual-perda auditiva de transmissão"]},"pl":{"name":"Dyzostoza przynasadowa - niepełnosprawność intelektualna- głuchota przewodzeniowa","synonyms":["Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující metafyzární dysostózu, mentální retardaci a převodní hluchotu","synonyms":["Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome"]},"uk":{"name":"Синдром метафізарного дизостозу - інтелектуальної недостатності - кондуктивної глухоти","synonyms":["Метафізарний дизостоз - інтелектуальна недостатність - кондуктивна приглухуватість"],"definition":"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive."},"zh":{"name":"干骺端成骨不全-智力障碍-传导性耳聋综合征","synonyms":["干骺端成骨不全-智力障碍-传导性耳聋综合征"]},"tr":{"name":"Metafizyel disostoz-zihinsel yetersizlik-iletken sağırlık sendromu","synonyms":["Metafizyal disostoz-zihinsel yetersizlik-iletim tipi işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"250420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1109968622"},{"source":"MONDO","code":"0009599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518775","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3566","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"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]},{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"5173335[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5173335[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-07","source":"5173335[PMID]","terms":[{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009760","label":"Antecubital pterygium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001964","label":"Aplasia/Hypoplasia of metatarsal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006417","label":"Broad femoral metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006009","label":"Broad phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006413","label":"Broad tibial metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003085","label":"Long fibula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002868","label":"Narrow iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}