{"orpha":1193,"name":"Atkin-Flaitz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability, Atkin type"],"definition":"A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1193/","orphanet_url":"https://www.orpha.net/en/disease/detail/1193","names":{"fr":{"name":"Syndrome d'Atkin-Flaitz","synonyms":["Déficience intellectuelle liée à l'X type Atkin"],"definition":"Déficience intellectuelle syndromique rare liée à l'X caractérisée par un déficit intellectuel de degré variable, une macrocéphalie, une petite taille et une dysmorphie faciale (front proéminent, crêtes supra-orbitaires proéminentes, hypertélorisme, fentes palpébrales inclinées vers le bas, pont nasal large, narines antéversées, lèvre inférieure épaisse et microdontie localisée). Parmi les autres caractéristiques rapportées figurent des convulsions, une macro-orchidie post-pubertaire, une obésité et des mains courtes et larges avec des doigts effilés."},"de":{"name":"Atkin-Flaitz-Syndrom","synonyms":["Intelligenzminderung, X-chromosomale, Typ Atkin"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die sich durch ein variables intellektuelles Defizit, Makrozephalie, Kleinwuchs und Gesichtsdysmorphien auszeichnet (z. B. vorstehende Stirn, vorstehende supraorbitale Grate, Hypertelorismus, schräg abwärts verlaufende Lidspalten, breite Nasenspitze, antevertierte Nasenlöcher, dicke Unterlippe und lokalisierte Mikrodontie). Darüber hinaus werden Krampfanfälle, postpubertärer Makroorchismus, Adipositas und kurze, breite Hände mit spitzen Fingern berichtet."},"es":{"name":"Síndrome de Atkin-Flaitz","synonyms":["Discapacidad intelectual ligada al cromosoma X tipo Atkin"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por discapacidad intelectual variable, macrocefalia, talla baja y dismorfia facial (frente y crestas supraoculares prominentes, hipertelorismo, fisuras palpebrales descendentes, punta nasal ancha, narinas antevertidas, labio inferior grueso y microdoncia localizada). Otros hallazgos descritos son crisis epilépticas, macroorquidia postpuberal, obesidad y manos cortas y anchas con dedos afilados distalmente."},"it":{"name":"Sindrome di Atkin-Flaitz","synonyms":["Ritardo mentale legato all'X, tipo Atkin","Disabilità cognitiva legata all'X, tipo Atkin"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da deficit intellettivo di gravità variabile, macrocefalia, bassa statura e dismorfismi facciali (fronte e arcate sopraorbitali prominenti, ipertelorismo, rime palpebrali oblique verso il basso, punta del naso larga, narici anteverse, labbro inferiore spesso e microdontia localizzata). I pazienti possono presentare anche crisi epilettiche, macroorchidismo post-puberale, obesità e mani corte e larghe con dita affusolate."},"nl":{"name":"Syndroom van Atkin-Flaitz","synonyms":["X-gebonden intellectuele achterstand, Atkin-type"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door variabele intellectuele achterstand, macrocefalie, kleine gestalte, en faciale dysmorfie (zoals prominent voorhoofd, prominente supraorbitale randen, hypertelorisme, schuin naar beneden hellende ooglidspleten, brede neuspunt, anteversie van de neusgaten, dikke onderlip, en gelokaliseerde microdontie). Bijkomend gerapporteerde kenmerken zijn onder meer insulten, postpuberale macro-orchidie, obesitas, en korte, brede handen met taps toelopende vingers."},"pt":{"name":"Síndrome Atkin-Flaitz","synonyms":["Perturbação do desenvolvimento intelectual ligado ao X, tipo Atkin"]},"pl":{"name":"Zespół Atkina i Flaitza","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X, typu Atkina"]},"cs":{"name":"Atkinové-Flaitzové syndrom","synonyms":["X-vázaná mentální retardace, Atkinové typ","Atkin-Flaitzové syndrom"]},"uk":{"name":"Синдром Аткіна-Флейца","synonyms":["Х-зчеплена розумова відсталість, тип Аткінга"],"definition":"A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers."},"zh":{"name":"Atkin-Flaitz综合征","synonyms":["X连锁智力障碍，Atkin型"]},"tr":{"name":"Atkin-Flaitz sendromu","synonyms":["X'e bağlı zihinsel yetersizlik, Atkin tipi"]}},"xrefs":[{"source":"OMIM","code":"300431","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010323","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796206","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3537","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"4025397[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4025397[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001593","label":"Maxillary lateral incisor microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null}]}}