{"orpha":999,"name":"Ermine phenotype","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["O'Doherty syndrome","Pigmentary disorder with deafness","Pigmentary disorder with hearing loss"],"definition":"A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-999/","orphanet_url":"https://www.orpha.net/en/disease/detail/999","names":{"fr":{"name":"Phénotype hermine","synonyms":["Syndrome d'O'Doherty"],"definition":"Surdité rare caractérisée par l'association d'une perte auditive neurosensorielle bilatérale et de cheveux blancs avec quelques mèches noires éparses, ainsi que des zones cutanées d'hyper- et d'hypopigmentation. Parmi les autres caractéristiques rapportées figurent un retard global de développement et une déficience intellectuelle modérée, un retard de croissance, une microcéphalie, une hypotonie, une légère dysmorphie faciale (yeux enfoncés profondément dans les orbites, large pont nasal, légère courbure de la lèvre supérieure), une dépigmentation de la rétine, des anomalies des doigts et des orteils et des anomalies de la substance blanche visibles à l'imagerie cérébrale."},"de":{"name":"Albinismus, kutaner, Hermelin-Phänotyp","synonyms":["O'Doherty-Syndrom","Pigmentstörung mit Hörverlust"],"definition":"Eine seltene Form der Schwerhörigkeit, die durch eine beidseitige Schallempfindungsschwerhörigkeit und weißes Haar mit vereinzelten schwarzen Büscheln sowie Hautareale mit Hyper- und Hypopigmentierung gekennzeichnet ist. Zu den weiteren berichteten Merkmalen gehören eine globale Entwicklungsverzögerung und mäßige Intelligenzminderung, Wachstumsverzögerung, Mikrozephalie, Hypotonie, leichte Gesichtsdysmorphien (tief liegende Augen, breiter Nasenrücken, leichte Wölbung der Oberlippe), Netzhautdepigmentierung, Anomalien der Finger und Zehen sowie Anomalien der weißen Substanz in der Bildgebung des Gehirns."},"es":{"name":"Albinismo cutáneo, fenotipo Hermine","synonyms":["Síndrome de O'Doherty","Trastorno pigmentario con hipoacusia","Trastorno pigmentario con sordera"],"definition":"Es una hipoacusia poco frecuente caracterizada por la asociación de pérdida auditiva neurosensorial bilateral y cabello blanco con mechones negros dispersos, así como áreas cutáneas de hiper- e hipopigmentación. Otras características adicionales descritas incluyen retraso global del desarrollo y discapacidad intelectual moderada, retraso del crecimiento, microcefalia, hipotonía, rasgos faciales dismórficos leves (ojos hundidos, puente nasal ancho, ligero arqueamiento del labio superior), despigmentación retiniana, anomalías de los dedos de manos y pies, y anomalías de la sustancia blanca en la neuroimagen."},"it":{"name":"Fenotipo ermellino","definition":"Si tratta di una sordità rara caratterizzata da sordità neurosensoriale bilaterale, capelli bianchi con ciuffi neri sparsi e zone di cute iper- e ipopigmentata. Altri segni clinici sono il ritardo dello sviluppo globale, la disabilità intellettiva moderata, il ritardo della crescita, la microcefalia, l'ipotonia, i dismorfismi facciali sfumati (occhi infossati, sella nasale ampia, labbro superiore lievemente incurvato), la depigmentazione della retina, le anomalie delle dita delle mani e dei piedi, e le anomalie della sostanza bianca evidenziate dalle neuroimmagini."},"nl":{"name":"Hermelijn-fenotype","synonyms":["Pigmentatiestoornis met gehoorverlies","Syndroom van O'Doherty"],"definition":"Een zeldzame doofheid, gekarakteriseerd door de associatie van bilateraal sensorineuraal gehoorverlies en wit haar met verspreide zwarte plukken, alsook delen van huid met hyper- en hypopigmentatie. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer algehele ontwikkelingsachterstand en matige intellectuele achterstand, groeiretardatie, microcefalie, hypotonie, milde dysmorfe gelaatskenmerken (diepliggende ogen, brede neusbrug, lichte verkromming van bovenlip), depigmentatie van netvlies, anomalieën van vingers en tenen, en afwijkingen van witte stop op beeldvorming van hersenen."},"pt":{"name":"Fenótipo Hermine","synonyms":["Albinismo cutâneo fenótipo Hermine","Síndrome O'Doherty"]},"pl":{"name":"Fenotyp gronostaja","synonyms":["Zaburzenia pigmentacji z utratą słuchu","Zespół O'Doherty"]},"cs":{"name":"Hermelínový fenotyp","synonyms":["O'Dohertyho syndrom","Porucha pigmentace se ztrátou sluchu"]},"uk":{"name":"Фенотип горностая","synonyms":["Синдром ОДоерті","Пігментний розлад з глухотою","Пігментний розлад зі зниженням слуху"],"definition":"A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging."},"zh":{"name":"色素紊乱伴发听力损失","synonyms":["色素异常伴听力丧失"]},"tr":{"name":"Ermin fenotipi","synonyms":["O'Doherty sendromu","Sağırlık ile seyreden pigment bozukluğu","İşitme kaybı ile seyreden pigment bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"227010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048725507"},{"source":"MONDO","code":"0009196","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"407","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"3055988[PMID]_19449401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3055988[PMID]_19449401[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}