{"orpha":2316,"name":"Johnson neuroectodermal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome","Alopecia-anosmia-deafness-hypogonadism syndrome","Johnson-McMillin syndrome"],"definition":"A rare neuroectodermal syndrome characterized by hypotrichosis/alopecia, hyposmia/anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism, and a greater than normal tendency to dental caries. Some patients may also present with mild facial asymmetry, cleft palate, facial nerve palsy, congenital heart defect, multiple truncal café-au-lait spots, and developmental delay/intellectual deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2316/","orphanet_url":"https://www.orpha.net/en/disease/detail/2316","names":{"fr":{"name":"Syndrome neuroectodermique de Johnson","synonyms":["Syndrome d'alopécie-anosmie-surdité-hypogonadisme","Syndrome de Johnson-McMillin"],"definition":"Syndrome neuroectodermique rare caractérisé par une hypotrichose/alopécie, une hyposmie/anosmie, une surdité de transmission associée à des oreilles décollées, une microtie et/ou une atrésie du conduit auditif externe, un hypogonadisme hypogonadotrope et une prédisposition supérieure à la normale aux caries dentaires. Certains patients peuvent également présenter une légère asymétrie faciale, une fente palatine, une paralysie du nerf facial, une malformation cardiaque congénitale, de multiples taches café-au-lait sur le tronc et un retard de développement/une déficience intellectuelle."},"de":{"name":"Neuroektodermales Syndrom Typ Johnson","synonyms":["Alopezie-Anosmie-Schallleitungsschwerhörigkeit-Hypogonadismus-Syndrom","Alopezie-Anosmie-Taubheit-Hypogonadismus-Syndrom","Johnson-Mcmillin-Syndrom"],"definition":"Das Neuroektodermale Syndrom Typ Johnson ist gekennzeichnet durch Alopezie, Anosmie oder Hyposmie, Schalleitungs-Schwerhörigkeit, Ohrenfehlbildungen, Mikrotie und/oder Atresie des äußeren Gehörganges und hypogonadotropen Hypogonadismus."},"es":{"name":"Síndrome neuroectodérmico de Johnson","synonyms":["Síndrome de Johnson-McMillin","Síndrome de alopecia-anosmia-hipoacusia conductiva-hipogonadismo","Síndrome de alopecia-anosmia-sordera-hipogonadismo"],"definition":"Es un síndrome neuroectodérmico poco frecuente caracterizado por hipotricosis/alopecia, hiposmia/anosmia, sordera conductiva asociada a orejas prominentes, microtia y/o atresia del conducto auditivo externo, hipogonadismo hipogonadotrópico y una mayor predisposición a la caries dental. Algunos pacientes también pueden presentar asimetría facial leve, hendidura palatina, parálisis del nervio facial, cardiopatía congénita, múltiples manchas café con leche en el tronco y retraso del desarrollo/discapacidad intelectual."},"it":{"name":"Sindrome neuroectodermica di Johnson","synonyms":["Sindrome alopecia-anosmia-sordità-ipogonadismo","Sindrome di Johnson-McMillin"]},"nl":{"name":"Neuro-ectodermaal syndroom van Johnson","synonyms":["Alopecie - anosmie - conductief gehoorverlies - hypogonadisme-syndroom","Alopecie - anosmie - doofheid - hypogonadisme-syndroom","Syndroom van Johnson-McMillin"],"definition":"Een zeldzaam neuro-ectodermaal syndroom, gekenmerkt door hypotrichose/alopecie, hyposmie/anosmie, conductieve doofheid geassocieerd met flaporen, microtie en/of atresie van uitwendige gehoorgang, hypogonadotroop hypogonadisme, en een groter dan normale neiging tot tandbederf. Sommige patiënten vertonen mogelijk ook milde asymmetrie van het aangezicht, gespleten gehemelte, uitval van nervus facialis, congenitaal hartdefect, multipele café-au-lait vlekken op de romp, en ontwikkelingsachterstand/intellectuele achterstand."},"pt":{"name":"Síndrome neuro-ectodérmico de Johnson","synonyms":["Síndrome de alopecia-anosmia-surdez-hipogonadismo"]},"pl":{"name":"Zespół neuroektodermalny Johnsona","synonyms":["Zespół Johnsona i McMillina","Zespół łysienia, braku węchu, głuchoty i hipogonadyzmu"]},"cs":{"name":"Johnsonové neuroektodermální syndrom","synonyms":["Syndrom zahrnující alopecii, anosmii, hluchotu a hypogonadismus","Johnsonové-McMillinův syndrom","Johnson-McMillinův syndrom"]},"uk":{"name":"Нейроектодермальний синдром Джонсона","synonyms":["Алопеція-аносмія-кондуктивна приглухуватість-гіпогонадизм","Синдром алопеції-аносмії-глухоти-гіпогонадизму","Синдром Джонсона-Мак-Мілліна"],"definition":"Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism."},"zh":{"name":"Johnson神经外胚层综合征","synonyms":["脱发-嗅觉缺失-传导性听力损失-性腺功能减退综合征"]},"tr":{"name":"Johnson nöroektodermal sendromu","synonyms":["Johnson-McMillin sendromu","Alopesi-anozmi-sağırlık-hipogonadizm sendromu","Alopesi-anozmi-iletim tipi işitme kaybı-hipogonadizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"147770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1480597785"},{"source":"MONDO","code":"0007837","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"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":"2017-11-22","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}