{"orpha":2115,"name":"Harrod syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cranio-facio-digito-genital syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2115/","orphanet_url":"https://www.orpha.net/en/disease/detail/2115","names":{"fr":{"name":"Syndrome de Harrod","synonyms":["Syndrome cranio-facio-digito-génital"],"definition":"Le syndrome de Harrod est caractérisé par l'association d'un déficit intellectuel, une dysmorphie faciale (palais hautement arqué, menton pointu et bouche petite, hypotélorisme, nez long et grandes oreilles décollées), une arachnodactylie, un hypogénitalisme (cryptorchidie et hypospadies) et un retard de croissance."},"de":{"name":"Harrod-Syndrom","synonyms":["Kranio-fazio-digito-genitales Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch die Kombination von Intelligenzminderung, Gesichtsdysmorphien (stark gewölbter Gaumen, spitzes Kinn und kleiner Mund, Hypotelorismus, lange Nase und große abstehende Ohren), Arachnodaktylie, Hypogenitalismus (Maldeszensus, Hypospadie) und Gedeihstörung gekennzeichnet ist."},"es":{"name":"Síndrome de Harrod","synonyms":["Síndrome cráneo-facio-dígito-genital"],"definition":"Es un síndrome dismórfico / con anomalías congénitas múltiples poco frecuente caracterizado por la asociación de discapacidad intelectual, dismorfia facial (paladar ojival, barbilla puntiaguda y boca pequeña, hipotelorismo, nariz larga y orejas grandes y protuberantes), aracnodactilia, hipogenitalismo (testículos no descendidos e hipospadias) y fallo de medro."},"it":{"name":"Sindrome di Harrod","synonyms":["Sindrome cranio-facio-digito-genitale"]},"nl":{"name":"Syndroom van Harrod","synonyms":["Cranio-facio-digito-genitaal syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de associatie van intellectuele achterstand, faciale dysmorfie (hoog gewelfd gehemelte, puntige kin, kleine mond, hypotelorisme, lange neus, en grote flaporen), arachnodactylie, hypogenitalisme (niet-ingedaalde testes en hypospadie), en niet-gedijen."},"pt":{"name":"Síndrome Harrod","synonyms":["Síndrome cranio-facio-digito-genital"],"definition":"Uma rara síndrome dismórfica/anomalia congénita múltipla caracterizada pela associação de perturbação do desenvolvimento intelectual, dismorfismo facial (palatoalto e arqueado, queixo pontiagudo e boca pequena, hipotelorismo, nariz longo e orelhas grandes e procidentes), aracnodactilia, hipogenitalismo (crisptorquidia e hipospádias) e problemas de crescimento."},"pl":{"name":"Zespół Harroda","synonyms":["Zespół czaszkowo-twarzowo-palcowo-płciowy"]},"cs":{"name":"Harrodův syndrom","synonyms":["Kraniofaciodigitogenitální syndrom"]},"uk":{"name":"Синдром Харрода","synonyms":["Краніо-фаціально-дигіто-генітальний синдром"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive."},"zh":{"name":"Harrod综合征","synonyms":["颅-面-指-生殖器综合征"]},"tr":{"name":"Harrod sendromu","synonyms":["Kraniyo-fasiyo-dijito-genital sendrom"]}},"xrefs":[{"source":"OMIM","code":"601095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010993","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535635","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795970","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2601","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":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8669446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8669446[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}