{"orpha":2282,"name":"Dysmorphism-short stature-deafness-difference of sex development syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Dysmorphism-short stature-deafness-disorder of sex development syndrome","Dysmorphism-short stature-hearing loss-disorder of sex development syndrome","Ieshima-Koeda-Inagaki syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphism (including microcephaly, facial asymmetry, arched eyebrows, hypertelorism, ptosis, broad and flat nasal bridge, small nose, inverted nostrils, cleft palate, microtia, micrognathia, and short neck), deafness, male pseudohermaphroditism and severe intellectual disability. Additional clinical features include intrauterine growth restriction, feeding difficulty, growth failure, pulmonary hypertension, patent ductus arteriosus, hypotonia, brisk tendon reflexes, repeated respiratory infections and persistent hypoxemia. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2282/","orphanet_url":"https://www.orpha.net/en/disease/detail/2282","names":{"fr":{"name":"Syndrome de dysmorphie-petite taille-surdité-différence du développement sexuel","synonyms":["Syndrome de Ieshima-Koeda-Inagaki","Syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une dysmorphie craniofaciale (microcéphalie, asymétrie faciale, sourcils arqués, hypertélorisme, ptosis, pont nasal large et plat, petit nez, narines antéversées, fente palatine, microtie, micrognathie et cou court), une surdité, un pseudohermaphrodisme masculin et une déficience intellectuelle sévère. Les autres signes cliniques comprennent un retard de croissance intra-utérin, des difficultés à s'alimenter, un retard de croissance, une hypertension pulmonaire, une persistance du canal artériel, une hypotonie, des réflexes tendineux rapides, des infections respiratoires récurrentes et une hypoxémie persistante. Aucun nouveau cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom","synonyms":["Leshima-Koeda-Inagaki-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch kraniofaziale Dysmorphien (einschließlich Mikrozephalie, Gesichtsdysmorphie, gewölbte Augenbrauen, Hypertelorismus, Ptosis, breiter und flacher Nasenrücken, kleine Nase, invertierte Nasenlöcher, Gaumenspalte, Mikrotie, Mikrognathie und kurzer Hals), Taubheit, männlichen Pseudohermaphroditismus und schwere Intelligenzminderung gekennzeichnet ist. Zu den weiteren klinischen Merkmalen gehören intrauterine Wachstumsverzögerung, Fütterungsschwierigkeiten, Wachstumsstörungen, pulmonale Hypertonie, offener Ductus arteriosus, Hypotonie, lebhafte Sehnenreflexe, wiederholte Atemwegsinfektionen und anhaltende Hypoxämie. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de dismorfia-talla baja-sordera-desarrollo sexual diferente","synonyms":["Síndrome de Ieshima-Koeda-Inagaki","Síndrome de dismorfia-talla baja-hipoacusia-trastorno del desarrollo sexual","Síndrome de dismorfia-talla baja-sordera-trastorno del desarrollo sexual"],"definition":"Es un síndrome poco frecuente de múltiples anomalías congénitas caracterizado por dismorfia craneofacial (incluyendo microcefalia, asimetría facial, cejas arqueadas, hipertelorismo, ptosis, puente nasal ancho y plano, nariz pequeña, narinas antevertidas, paladar hendido, microtia, micrognatia y cuello corto), sordera, pseudohermafroditismo masculino y discapacidad intelectual grave. Otras características clínicas incluyen restricción del crecimiento intrauterino, dificultad para la alimentación, retraso del crecimiento, hipertensión pulmonar, conducto arterioso persistente, hipotonía, reflejos tendinosos exaltados, infecciones respiratorias repetidas e hipoxemia persistente. No se han descrito más casos en la literatura desde 1986."},"it":{"name":"Dismorfismi - bassa statura - sordità - pseudoermafroditismo","synonyms":["Ritardo mentale - nanismo - sordità - anomalie genitali","Sindrome di Leshima-Koeda-Inagaki"]},"nl":{"name":"Dysmorfie - kleine gestalte - doofheid - geslachtsontwikkelingsstoornis-syndroom","synonyms":["Dysmorfie - kleine gestalte - gehoorverlies - geslachtsontwikkelingsstoornis-syndroom","Syndroom van Ieshima-Koeda-Inagaki"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door craniofaciale dysmorfie (met microcefalie, asymmetrie van het aangezicht, gebogen wenkbrauwen, hypertelorisme, ptosis, brede en platte neusbrug, kleine neus, inversie van de neusgaten, gespleten gehemelte, microtie, micrognathie, en korte hals), doofheid, mannelijk pseudohermafroditisme, en ernstige intellectuele achterstand. Bijkomende klinische kenmerken zijn onder meer intra-uteriene groeirestrictie, voedingsproblemen, groeifalen, pulmonale hypertensie, persisterende ductus arteriosus, hypotonie, hoge peesreflexen, herhaaldelijke infecties van de luchtwegen, en aanhoudende hypoxemie. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de dismorfia-baixa estatura-surdez-doença do desenvolvimento sexual","synonyms":["Síndrome Ieshima-Koeda-Inagaki"]},"pl":{"name":"Dysmorfia - niski wzrost - głuchota - zaburzenia różnicowania płci","synonyms":["Dysmorfia - niski wzrost - głuchota - pseudohermafrodytyzm"]},"cs":{"name":"Syndrom zahrnující dysmorfismus, malý vzrůst, hluchotu a poruchu vývoje pohlaví","synonyms":["Syndrom zahrnující dysmorfismus, malý vzrůst, hluchotu a pseudohermafroditismus"]},"uk":{"name":"Синдром дисморфізму - низького зросту - глухоти - порушення статевої диференціації","synonyms":["Синдром дизморфізму - низькорослості - глухоти - порушення статевого розвитку","Синдром дизморфізму - низькорослості - втрати слуху - порушення статевого розвитку","Синдром Ієшима-Коеда-Інагакі"],"definition":"Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait."},"zh":{"name":"先天性畸形-身材矮小-耳聋-性发育障碍综合征","synonyms":["Ieshima-Koeda-Inagaki综合征"]},"tr":{"name":"Dismorfizm-boy kısalığı-sağırlık-cinsiyet gelişim sendromu bozukluğu","synonyms":["Dismorfizm-kısa boy-işitme kaybı-cinsiyet gelişim bozukluğu sendromu","Ieshima-Koeda-Inagaki sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518561","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":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3757305[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3757305[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-05","source":"3757305[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","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:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Occasional (29-5%)","criteria":null}]}}