{"orpha":2560,"name":"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2560/","orphanet_url":"https://www.orpha.net/en/disease/detail/2560","names":{"fr":{"name":"Syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope","synonyms":["Syndrome de Möbius-neuropathie axonale-hypogonadisme hypogonadotrope"],"definition":"Ce syndrome est caractérisé par l'association d'un syndrome de Moebius (paralysie faciale congénitale avec impossibilité d'abduction oculaire) à une neuropathie périphérique axonale et un hypogonadisme hypogonadotrope."},"de":{"name":"Moebius-Syndrom mit axonale Neuropathier und hypogonadotropen Hypogonadismus","definition":"Eine syndromale neurologische Störung, die durch die Verbindung des Möbius-Syndroms (angeborene Gesichtslähmung mit beeinträchtigter Augenabduktion) mit peripherer axonaler Neuropathie und hypogonadotropem Hypogonadismus gekennzeichnet ist. Seit 1996 gibt es keine weiteren Berichte."},"es":{"name":"Síndrome de Möbius-neuropatía axonal-hipogonadismo hipogonadotrópico","definition":"Es un trastorno neurológico sindrómico poco frecuente que se caracteriza por la asociación del síndrome de Möbius (diplejía facial congénita con anomalías oculares) con neuropatía axonal periférica e hipogonadismo hipogonadotrópico. No ha habido nuevos casos descritos en la literatura desde 1996."},"it":{"name":"Sindrome di Moebius - neuropatia assonale - ipogonadismo ipogonadotropo"},"nl":{"name":"Syndroom van Moebius - axonale neuropathie - hypogonadotroop hypogonadisme-syndroom","definition":"Een zeldzame syndromale neurologische aandoening, gekenmerkt door de associatie van syndroom van Moebius (congenitale aangezichtsverlamming met verstoorde oculaire abductie) met perifere axonale neuropathie en hypogonadotroop hypogonadisme. Sinds 1996 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de neuropatia axonal-síndrome Moebius-hipogonadismo hipogonadotrópico","definition":"Doença neurológica sindromática rara caracterizada pela associação da síndrome de Möbius (paralisia facial congénita com comprometimento da abdução ocular) com neuropatia axonal periférica e hipogonadismo hipogonadotrófico. Não há mais descrições na literatura desde 1996."},"pl":{"name":"Zespół Möbiusa - neuropatia aksonalna - hipogonadyzm hipogonadotropowy"},"cs":{"name":"Syndrom zahrnující Moebiusův syndrom, axonální neuropatii a hypogonadotropní hypogonadismus"},"uk":{"name":"Синдром Мебіуса - аксональна нейропатія - синдром гіпогонадотропного гіпогонадизму","definition":"A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996."},"zh":{"name":"Moebius综合征-轴突性神经病-低促性腺激素的性功能减退症综合征"},"tr":{"name":"Moebius sendromu-aksonal nöropati-hipogonadotropik hipogonadizm sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931024","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"17401577[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17401577[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-20","source":"204751[PMID]_8905202[PMID]","terms":[{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045037","label":"Abnormality of jaw muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007209","label":"Facial paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000182","label":"Movement abnormality of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null}]}}