{"orpha":1123,"name":"Caudal appendage-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Caudal appendage-hearing loss syndrome","Lynch-Lee-Murday syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1123/","orphanet_url":"https://www.orpha.net/en/disease/detail/1123","names":{"fr":{"name":"Syndrome d'appendice caudal-surdité","synonyms":["Syndrome de Lynch-Lee-Murday"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un appendice caudal, des phalanges distales courtes et une surdité. D'autres caractéristiques cliniques peuvent inclure une petite taille, une déficience intellectuelle, une dysmorphie faciale et une cryptorchidie. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Kaudaler Appendix-Taubheit-Syndrom","synonyms":["Lynch-Lee-Murday-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch kaudale Anhängsel, kurze Endphalangen und Taubheit gekennzeichnet ist. Weitere klinische Merkmale können Kleinwuchs, Intelligenzminderung, Gesichtsdysmorphien und Kryptorchismus sein. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de apéndice caudal-sordera","synonyms":["Síndrome de Lynch-Lee-Murday","Síndrome de apéndice caudal-hipoacusia"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por apéndice caudal, falanges terminales cortas y sordera. Las características clínicas adicionales pueden incluir talla baja, discapacidad intelectual, dismorfia facial y criptorquidia. No ha habido más descripciones en la literatura desde 1994."},"it":{"name":"Appendice caudale - sordità","synonyms":["Sindrome di Lynch-Lee-Murday"]},"nl":{"name":"Caudaal aanhangsel - doofheid-syndroom","synonyms":["Caudaal aanhangsel - gehoorverlies-syndroom","Syndroom van Lynch-Lee-Murday"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door caudaal aanhangsel, korte distale falangen en doofheid. Mogelijke bijkomende klinische kenmerken zijn onder meer kleine gestalte, intellectuele achterstand, faciale dysmorfie en cryptorchisme. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de apêndice caudal-surdez","synonyms":["Síndrome Lynch-Lee-Murday","Síndrome de apêndice caudal-perda auditiva"],"definition":"Síndrome dismórfica/anomalia congénita múltipla rara caracterizada por apêndice caudal, falanges terminais curtas e surdez. As características clínicas adicionais podem incluir baixa estatura, perturbação do desenvolvimento intelectual, dismorfismo facial e criptorquidia. Não existem descrições adicionais na literatura desde 1994."},"pl":{"name":"Przydatek ogonowy - głuchota","synonyms":["Zespół Lyncha, Lee i Murday'a"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny, który charakteryzuje się obecnością wyrostka ogonowego, krótkich paliczków dalszych oraz niedosłuchem. Dodatkowe cechy kliniczne mogą obejmować niski wzrost, niepełnosprawność intelektualną, dysmorfię twarzy i wnętrostwo. Od 1994 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kaudální přívěsek a hluchotu","synonyms":["Lynchův-Leeův-Murdayův syndrom","Lynch-Lee-Murdayův syndrom"]},"uk":{"name":"Синдром хвостоподібного придатку-глухоти","synonyms":["Синдром каудальної придаткової приглухуватості","Синдром Лінча-Лі-Мердея"],"definition":"Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys."},"zh":{"name":"尾部附肢-耳聋综合征","synonyms":["尾部附肢-听力丧失综合征"]},"tr":{"name":"Kaudal apendage-sağırlık sendromu","synonyms":["Lynch-Lee-Murday sendromu","Kaudal apendaj-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"189102363"},{"source":"MONDO","code":"0015233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537713","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931593","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1163","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7894739[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7894739[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-05","source":"7894739[PMID]","terms":[{"hpo":"HP:0011297","label":"Abnormal digit morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002825","label":"Caudal appendage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}