{"orpha":293967,"name":"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome"],"definition":"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293967/","orphanet_url":"https://www.orpha.net/en/disease/detail/293967","names":{"fr":{"name":"Syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie","definition":"Syndrome rare d'insuffisance hypophysaire non acquise caractérisé par une microcéphalie congénitale sévère, une dysmorphie faciale (sourcils très arqués, hypertélorisme, arête nasale convexe, oreilles décollées et branche supérieure de l'anthélix insuffisamment développée, micrognathie), une surdité neurosensorielle bilatérale et un hypogonadisme hypogonadotrope, en association avec des difficultés précoces à s'alimenter, une myopie, une déficience intellectuelle modérée et une petite taille de forme modérée."},"de":{"name":"Hypogonadotroper Hypogonadismus - schwere Mikrozephalie - Sensorineurale Schwerhörigkeit - Dysmorphien"},"es":{"name":"Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-hipoacusia neurosensorial-dismorfia","synonyms":["Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-sordera neurosensorial-dismorfia"],"definition":"El síndrome de hipogonadismo hipogonadotrópico - microcefalia grave - pérdida auditiva neurosensorial - dismorfia es un síndrome poco frecuente no adquirido, de deficiencia de hormona hipofisaria, caracterizado por microcefalia congénita y grave, dismorfia facial (cejas muy arqueadas, hipertelorismo, cresta nasal convexa, orejas prominentes con raíz superior del antihélix infradesarrollada, micrognatia), sordera neurosensorial bilateral e hipogonadismo hipogonadotrópico, en asociación con problemas tempranos de alimentación, miopía, discapacidad intelectual moderada y talla baja moderada."},"it":{"name":"Sindrome da ipogonadismo ipogonadotropo, microcefalia grave, sordità neurosensoriale e dismorfismi","synonyms":["Sindrome ipogonadismo ipogonadotropo-microcefalia grave-sordità neurosensoriale-dismorfismi"],"definition":"La sindrome che associa l'ipogonadismo ipogonadotropo, la microcefalia grave, la sordità neurosensoriale e i dismorfismi è un difetto raro non acquisito dell'ormone ipofisario, caratterizzato da grave microcefalia congenita, dismorfismi facciali (sopracciglia arcuate, ipertelorismo, sella nasale convessa, orecchie prominenti con fossa superiore dell'antielice iposviluppata, micrognazia), sordità neurosensoriale bilaterale, ipogonadismo ipogonadotropo, problemi di alimentazione ad esordio precoce, miopia, disabilità intellettiva moderata e statura lievemente bassa."},"nl":{"name":"Hypogonadotroop hypogonadisme - ernstige microcefalie - sensorineuraal gehoorverlies - dysmorfie-syndroom","synonyms":["Hypogonadotroop hypogonadisme - ernstige microcefalie - sensorineurale doofheid - dysmorfie-syndroom"],"definition":"Hypogonadotroop hypogonadisme - ernstige microcefalie - sensorineuraal gehoorverlies - dysmorfie-syndroom is een zeldzaam, niet-verworven syndroom met deficiëntie van hypofysehormonen, en wordt gekarakteriseerd door ernstige, congenitale microcefalie, faciale dysmorfie (hoge gebogen wenkbrauwen, hypertelorisme, convexe neusrug, uitstekende oren met onderontwikkeld bovenste crus van de antihelix, micrognathie), bilaterale sensorineurale doofheid, en hypogonadotroop hypogonadisme, geassocieerd met vroege voedingsproblemen, myopie, matige intellectuele achterstand en matig kleine gestalte."},"pt":{"name":"Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-perda auditiva neurossensorial-dismorfia","synonyms":["Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-surdez neurossensorial-dismorfias"]},"pl":{"name":"Zespół hipogonadyzmu hipogonadotropowego, znacznego małogłowia, niedosłuchu zmysłowo-nerwowego i dysmorfii","synonyms":["Zespół hipogonadyzm hipogonadotropowy-znaczna mikrocefalia-głuchota zmysłowo-nerwowa"],"definition":"*Zespół hipogonadyzmu hipogonadotropowego, znacznego małogłowia, niedosłuchu zmysłowo-nerwowego i dysmorfii jest rzadkim, wrodzonym zespołem niedoboru hormonów przysadki, który charakteryzuje się ciężkim, wrodzonym małogłowiem, dysmorfią twarzy (wysoko wysklepione, łukowate brwi, hiperteloryzm, wypukły grzbiet nosa, odstające uszy z niedorozwojem górnej odnogi grobelki, małożuchwie) oraz obustronnym niedosłuchem zmysłowo-nerwowym i hipogonadyzmem hipogonadotropowym, którym towarzyszą wczesne problemy z żywieniem, krótkowzroczność, umiarkowana niepełnosprawność intelektualna i umiarkowanie niski wzrost."},"cs":{"name":"Syndrom zahrnující hypogonadotropní hypogonadismus, závážnou mikrocefalii, senzorineurální ztrátu sluchu a dysmorfismus","synonyms":["Syndrom zahrnující hypogonadotropní hypogonadismus, závážnou mikrocefalii, senzorineurální hluchotu a dysmorfismus"]},"uk":{"name":"Синдром гіпогонадотропного гіпогонадизму-тяжкої мікроцефалії-сенсоневральної приглухуватості-дисморфізму","synonyms":["Синдром гіпогонадотропного гіпогонадизму - тяжкої мікроцефалії - сенсоневральної глухоти - дисморфізму"],"definition":"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature."},"zh":{"name":"低促性腺激素性腺功能减退症-严重小头畸形-感音神经性聋-畸形综合征","synonyms":["低促性腺激素减退症-严重小头畸形-感音神经性耳聋-畸形综合征"],"definition":"低促性腺素性功能减退症-严重小头畸形-感音神经性听力损失-畸形综合征是一种罕见的非获得性垂体激素缺乏综合征，其特征是重度先天性小头畸形、面部畸形（高拱形眉毛、眼距过宽、凸鼻嵴、招风耳、对耳轮上脚发育不全，小颌畸形），双侧感音神经性耳聋和低促性腺素性功能减退症，与早期喂养问题、近视、中度智力障碍和中度身材矮小有关。"},"tr":{"name":"Hipogonadotropik hipogonadizm-ağır mikrosefali-sensörinöral işitme kaybı-dismorfizm sendromu","synonyms":["Hipogonadotropik hipogonadizm-ağır mikrosefali-sensörinöral sağırlık-dismorfizm sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751123","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22002932[PMID]"},{"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":"2016-02-24","source":"22002932[PMID]","terms":[{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100689","label":"Decreased corneal thickness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003799","label":"Marked delay in bone age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011408","label":"Moderate intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011246","label":"Underdeveloped superior crus of antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009185","label":"Contracture of the proximal interphalangeal joint of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006353","label":"Hypoplasia of the tooth germ","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}