{"orpha":2558,"name":"Mikati-Najjar-Sahli syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Microcephaly-hypergonadotropic hypogonadism-short stature syndrome"],"definition":"A rare syndrome with hypergonadotropic hypogonadism characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (including a narrow forehead, synophrys, abnormally folded pinna, and micrognathia). Early teeth loss, gynecomastia, cubitus valgus, genu valgum and cryptorchidism were reported in some patients. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2558/","orphanet_url":"https://www.orpha.net/en/disease/detail/2558","names":{"fr":{"name":"Syndrome de Mikati-Najjar-Sahli","synonyms":["Syndrome de microcéphalie-hypogonadisme hypergonadotrope-petite taille"],"definition":"Le syndrome de Mikati-Najjar-Sahli est caractérisé par une microcéphalie, un hypogonadisme hypergonadotrope, une petite taille et une dysmorphie faciale (front étroit, hypertrophie et fusion des sourcils, micrognathie, et anomalies du pavillon auriculaire)."},"de":{"name":"Mikati-Najjar-Sahli-Syndrom","synonyms":["Mikrozephalie - hypergonadotroper Hypogonadismus - Kleinwuchs"],"definition":"Ein seltenes Syndrom mit hypergonadotropem Hypogonadismus, das durch Mikrozephalie, hypergonadotropen Hypogonadismus, Kleinwuchs und Gesichtsdysmorphie (einschließlich schmaler Stirn, Synophrys, abnormal gefalteter Ohrmuschel und Mikrognathie) gekennzeichnet ist. Bei einigen Patienten wurden früher Zahnverlust, Gynäkomastie, Cubitus valgus, Genu valgum und Kryptorchismus berichtet. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Mikati-Najjar-Sahli","synonyms":["Microcefalia-hipogonadismo hipergonadotrópico-talla baja"],"definition":"Es un síndrome caracterizado por microcefalia, hipogonadismo hipergonadotrópico, talla baja y dismorfia facial (frente estrecha, hipertrofia y fusión de las cejas, micrognatia y anomalías del pabellón auricular)."},"it":{"name":"Sindrome di Mikati-Najjar-Sahli","synonyms":["Microcefalia - ipogonadismo ipergonadotropo - bassa statura"]},"nl":{"name":"Syndroom van Mikati-Najjar-Sahli","synonyms":["Microcefalie - hypergonadotroop hypogonadisme - kleine gestalte-syndroom"],"definition":"Een zeldzaam syndroom met hypergonadotroop hypogonadisme, gekenmerkt door microcefalie, hypergonadotroop hypogonadisme, kleine gestalte en faciale dysmorfie (met onder meer een smal voorhoofd, synophrys, abnormaal gevouwen oorschelp, en micrognathie). Vroegtijdig verlies van tanden, gynaecomastie, cubitus valgus, genu valgum en cryptorchisme werden gerapporteerd bij sommige patiënten. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Mikati-Najjar-Sahli","synonyms":["Síndrome de microcefalia-hipogonadismo hipergonadotrópico-baixa estatura"],"definition":"A síndrome de Mikati-Najjar-Sahli é caracterizada por microcefalia, hipogonadismo hipergonadotrópico, baixa estatura e dismorfismo facial (uma testa estreita, hipertrofia e fusão das sobrancelhas, micrognatia e anomalias da pinna."},"pl":{"name":"Zespół Mikati, Najjara i Sahli","synonyms":["Mikrocefalia - hipogonadyzm hipergonadotropowy - niski wzrost"]},"cs":{"name":"Mikatiho-Najjarův-Sahliové syndrom","synonyms":["Syndrom zahrnující mikrocefalii, hypergonadotropní hypogonadismus a malý vzrůst","Mikati-Najjar-Sahliové syndrom"]},"uk":{"name":"Синдром Мікаті-Наджар-Сахлі","synonyms":["Синдром мікроцефалії-гіпергонадотропного гіпогонадизму- низького зросту"],"definition":"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)."},"zh":{"name":"Mikati-Najjar-Sahli综合征","synonyms":["小头畸形-高促性腺素性功能减退症-身材矮小综合征"]},"tr":{"name":"Mikati-Najjar-Sahli sendromu","synonyms":["Mikrosefali-hipergonadotropik hipogonadizm-kısa boy sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"2998187[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2998187[PMID]"}],"phenotypes":null}