{"orpha":85321,"name":"Deafness-intellectual disability syndrome, Martin-Probst type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-intellectual disability syndrome, Martin-Probst type","Martin-Probst syndrome","X-linked deafness-intellectual disability syndrome","X-linked hearing loss-intellectual disability syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85321/","orphanet_url":"https://www.orpha.net/en/disease/detail/85321","names":{"fr":{"name":"Syndrome de surdité-déficience intellectuelle type Martin-Probst","synonyms":["Syndrome de Martin-Probst","Syndrome de surdité-déficience intellectuelle lié à l'X"],"definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par une surdité neurosensorielle congénitale, une déficience intellectuelle de degré variable, une petite taille et une dysmorphie faciale (télécanthus, épicanthus, racine nasale large, hypoplasie malaire, oreilles d'implantation basse, anomalies dentaires et micrognathie). Les autres manifestations rapportées sont microcéphalie, anomalies rénales et génito-urinaires, mamelons hypoplasiques et très espacés, et pancytopénie progressive débutant à l'âge adulte."},"de":{"name":"Schwerhörigkeit-Intelligenzminderung-Syndrom Typ Martin-Probst","synonyms":["Martin-Probst-Syndrom","Syndrom der X-chromosomalen Schwerhörigkeit mit Intelligenzminderung","X-chromosomaler Hörverlust mit Intelligenzminderung"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch angeborene Schallempfindungsschwerhörigkeit, unterschiedliche Grade der Intelligenzminderung, Kleinwuchs und dysmorphe Gesichtsmerkmale (wie Telekanthus, Epikanthusfalten, breite Nasenwurzel, Malarhypoplasie, tief angesetzte Ohren, Zahnanomalien und Mikrognathie) gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören Mikrozephalie, Nieren- und Urogenitalanomalien, weit auseinander liegende, hypoplastische Brustwarzen und eine im Erwachsenenalter auftretende progressive Panzytopenie."},"es":{"name":"Síndrome de sordera-discapacidad intelectual tipo Martin-Probst","synonyms":["Síndrome de Martin-Probst","Síndrome de hipoacusia-discapacidad intelectual ligado al cromosoma X","Síndrome de hipoacusia-discapacidad intelectual tipo Martin-Probst","Síndrome de sordera-discapacidad intelectual ligado al cromosoma X"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por hipoacusia neurosensorial congénita, discapacidad intelectual de grado variable, talla baja y rasgos faciales dismórficos (como telecanto, pliegues epicánticos, raíz nasal ancha, hipoplasia malar, orejas de implantación baja, anomalías dentales y micrognatia). Otras manifestaciones descritas incluyen microcefalia, anomalías renales y genitourinarias, mamilas hipoplásicas ampliamente espaciadas y pancitopenia progresiva de inicio en la edad adulta."},"it":{"name":"Sindrome sordità-deficit cognitivo, tipo Martin-Probst","synonyms":["Sindrome sordità-disabilità intellettiva tipo Martin-Probst","Sindrome sordità-deficit cognitivo legato all'X","Sindrome perdita dell'udito-disabilità intelletiva, tipo Martin-Probst","Sindrome perdita dell'udito-disabilità intellettiva legata all'X","Sindrome sordità-disabilità intellettiva legata all'X","Sindrome di Martin-Probst"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da sordità neurosensoriale congenita, disabilità intellettiva di gravità variabile, bassa statura e dismorfismi facciali (telecanto, epicanto, sella nasale larga, ipoplasia malare, orecchie a basso impianto, anomalie dei denti e micrognazia). I pazienti possono presentare anche microcefalia, anomalie renali e genitourinarie, capezzoli iperdistanziati e ipoplastici, e pancitopenia progressiva ad esordio nell'età adulta."},"nl":{"name":"Doofheid - intellectuele achterstand-syndroom, Martin-Probst-type","synonyms":["Gehoorverlies - intellectuele achterstand-syndroom, Martin-Probst-type","Syndroom van Martin-Probst","X-gebonden doofheid - intellectuele achterstand-syndroom","X-gebonden gehoorverlies - intellectuele achterstand-syndroom"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door congenitaal sensorineuraal gehoorverlies, variabele gradaties van intellectuele achterstand, kleine gestalte, en dysmorfe gelaatskenmerken (zoals telecanthus, epicanthusplooien, brede neuswortel, hypoplasie van jukbeenderen, laagstaande oren, dentale anomalieën, en micrognathie). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer microcefalie, renale en urogenitale afwijkingen, ver uit elkaar staande en hypoplastische tepels, en in de volwassenheid optredende progressieve pancytopenie."},"pt":{"name":"Síndrome de surdez-perturbação do desenvolvimento intelectual, tipo Martin-Probst","synonyms":["Síndrome Martin-Probst","Síndrome de perda auditiva-perturbação do desenvolvimento intelectual ligada ao X","Síndrome de perda auditiva-perturbação do desenvolvimento intelectual, tipo Martin-Probst","Síndrome de surdez-perturbação do desenvolvimento intelectual ligada ao X"]},"pl":{"name":"Głuchota - niepełnosprawność intelektualna typu Martina i Probsta","synonyms":["Zespół głuchota sprzężona z chromosomem X - niepełnosprawność intelektualna","Zespół Martina i Probsta","Zespół głuchoty i niepełnosprawności intelektualnej typu Martina-Probsta"]},"cs":{"name":"Syndrom zahrnující hluchotu a mentální retardaci, Martinové-Probstův typ","synonyms":["X-vázaný syndrom zahrnující hluchotu a mentální retardaci","Martinové-Probstův syndrom","Syndrom zahrnující hluchotu a mentální retardaci, Martin-Probstův typ","Martin-Probstův syndrom"]},"uk":{"name":"Синдром глухоти-інтелектуальної недостатності, тип Мартіна-Пробста","synonyms":["Синдром туговухості-інтелектуальної недостатності, тип Мартіна-Пробста","Синдром Мартіна-Пробста","Х-зчеплений синдром глухоти-інтелектуальної недостатності","Х-зчеплений синдром втрати слуху та інтелектуальної недостатності"],"definition":"A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia."},"zh":{"name":"耳聋-智力障碍综合征，Martin-Probst型","synonyms":["听力丧失-智力障碍综合征，Martin-Probst型"]},"tr":{"name":"Sağırlık-zihinsel yetersizlik sendromu, Martin-Probst tipi","synonyms":["Martin-Probst sendromu","X'e bağlı sağırlık-zihinsel yetersizlik sendromu","X'e bağlı işitme kaybı-zihinsel yetersizlik sendromu","İşitme kaybı-zihinsel yetersizlik sendromu, Martin-Probst tipi"]}},"xrefs":[{"source":"OMIM","code":"300519","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"458131527"},{"source":"MONDO","code":"0010353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845285","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11073537[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11073537[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11073537[PMID]","terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","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:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}