{"orpha":3255,"name":"Filippi syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Type 1 syndactyly-microcephaly-intellectual disability syndrome"],"definition":"Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3255/","orphanet_url":"https://www.orpha.net/en/disease/detail/3255","names":{"fr":{"name":"Syndrome de Filippi","synonyms":["Syndrome de syndactylie type 1-microcéphalie-déficience intellectuelle"],"definition":"Le syndrome de Filippi est caractérisé par une microcéphalie, une syndactylie cutanée des doigts et des orteils, un déficit intellectuel, un retard de la croissance et un faciès caractéristique (une racine nasale haute et large, des ailes du nez fines, une micrognathie et des cheveux haut implantés). A ce jour, moins de 25 cas ont été rapportés. Une cryptorchidie, une polydactylie et des anomalies dentaires et pilaires peuvent aussi être présentes. La transmission est autosomique récessive."},"de":{"name":"Filippi-Syndrom","synonyms":["Typ-1-Syndaktylie-Mikrozephalie-Intelligenzminderung-Syndrom"],"definition":"Das Filippi-Syndrom ist gekennzeichnet durch Mikrozephalie, kutane Syndaktylie der Finger und Zehen,Intelligenzminderung, Kleinwuchs und ein charakteristisches Gesicht (hoher breiter Nasenrücken, dünne Nasenflügel, Mikrogenie, hoher Stirn-Haaransatz)."},"es":{"name":"Síndrome de Filippi","synonyms":["Síndrome de sindactilia-microcefalia-discapacidad intelectual tipo 1"],"definition":"El síndrome de Filippi se caracteriza por: microcefalia, sindactilia cutánea de los dedos de manos y pies, déficit intelectual, retraso en el crecimiento y facies característica (raíz nasal alta y ancha, alas nasales finas, micrognatia y línea de implantación frontal del cabello alta). Hasta el momento, se han descrito menos de 25 casos. También pueden darse: criptorquidia, polidactilia y anomalías en dientes y pelo. La transmisión es autosómica recesiva."},"it":{"name":"Sindrome di Filippi","synonyms":["Sindrome sindattilia tipo 1-microcefalia-disabilità intellettiva"]},"nl":{"name":"Syndroom van Filippi","synonyms":["Syndactylie type 1 - microcefalie - intellectuele achterstand-syndroom"],"definition":"Syndroom van Filippi wordt gekenmerkt door microcefalie, cutane syndactylie van vingers en tenen, intellectuele achterstand, groeiretardatie, en typische gelaatskenmerken (hoge en brede neusbrug, dunne neusvleugels, micrognathie, en hoge voorste haarlijn). Tot op heden werden minder dan 25 gevallen gerapporteerd. Cryptorchisme, polydactylie, en anomalieën van tanden en haar kunnen ook aanwezig zijn. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Síndrome Filippi","synonyms":["Síndrome de sindactilia tipo 1-microcefalia-perturbação do desenvolvimento intelectual"],"definition":"A síndrome de Filippi é caracterizada por microcefalia, sindactilia cutânea dos dedos das mãos e dos pés, défice intelectual, atraso de crescimento e face característica (ponte nasal alta e larga, ala nasal estreita, micrognatia e linha de implantação frontal do cabelo alta)."},"pl":{"name":"Zespół Filippi","synonyms":["Syndaktylia, typu 1 - małogłowie - niepełnosprawność intelektualna"]},"cs":{"name":"Filippiho syndrom","synonyms":["Syndrom zahrnující syndaktylii, typ 1, mikrocefalii a mentální retardaci"]},"uk":{"name":"Синдром Філіппі","synonyms":["Синдром синдактилії-мікроцефалії-інтелектуальної недостатності 1-го типу"],"definition":"Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive."},"zh":{"name":"Filippi综合征","synonyms":["1型并指（趾）-小头畸形-智力障碍综合征"]},"tr":{"name":"Filippi sendromu","synonyms":["Tip 1 sindaktili-mikrosefali-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"272440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1989471300"},{"source":"MONDO","code":"0010092","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795940","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"62","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":137658,"name":"Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome","status":"inactive"}],"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":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CKAP2L","name":"cytoskeleton associated protein 2L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25439729[PMID]","hgnc":"26877","ensembl":"ENSG00000169607","omim":"616174","loci":["2q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"26813917[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26813917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-12","source":null,"terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe 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:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010580","label":"Enlarged epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}