{"orpha":85276,"name":"X-linked intellectual disability, Armfield type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Armfield syndrome"],"definition":"X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85276/","orphanet_url":"https://www.orpha.net/en/disease/detail/85276","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Armfield","synonyms":["Syndrome d'Armfield"],"definition":"La déficience intellectuelle liée à l'X de type Armfield est caractérisée par une déficience intellectuelle, une petite taille, des crises d'épilepsie et des mains et des pieds de petite taille. Elle a été décrite chez six garçons d'une même famille sur trois générations. Trois d'entre eux présentaient également une cataracte ou un glaucome et deux une fente palatine. Le locus a été identifié en Xq28, dans la portion terminale de 8 Mb."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Armfield","synonyms":["Armfield-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Intelligenzminderung, Kleinwuchs, zerebrale Krämpfe und kleine Hände und Füße."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Armfield","synonyms":["Síndrome de Armfield"],"definition":"Es un trastorno caracterizado por deficiencia intelectual, talla baja, crisis epilépticas y manos y pies pequeños. Se ha descrito en seis varones de tres generaciones de una familia. Tres de ellos también presentaban cataratas/ glaucoma y, dos de ellos, hendidura palatina. El locus se ha asignado a la región terminal 8 Mb de Xq28."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Armfield","synonyms":["Sindrome di Armfield"]},"nl":{"name":"X-gebonden intellectuele achterstand, Armfield-type","synonyms":["Syndroom van Armfield"],"definition":"X-gebonden intellectuele achterstand, Armfield-type, wordt gekenmerkt door intellectuele achterstand, kleine gestalte, insulten, en kleine handen en voeten. Het werd beschreven bij zes mannen uit drie generaties van één familie. Drie van hen hadden ook cataract/glaucoom, en twee van hen hadden gespleten gehemelte. De locus werd gelokaliseerd op de terminale 8 Mb van Xq28."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Armfield","synonyms":["Síndrome Armfield"]},"pl":{"name":"Niepełnosprawność intelektualna typu Armfielda sprzężona z chromosomem X","synonyms":["Zespół Armfielda"]},"cs":{"name":"X-vázaná mentální retardace, Armfieldův typ","synonyms":["Armfieldův syndrom"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Армфілда","synonyms":["Синдром Армфілда"],"definition":"X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28."},"zh":{"name":"X连锁智力障碍，Armfield型","synonyms":["Armfield综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Armfield tipi","synonyms":["Armfield sendromu"]}},"xrefs":[{"source":"OMIM","code":"300261","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010284","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305022","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":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"10398235[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10398235[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10398235[PMID]","terms":[{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000996","label":"Facial capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012023","label":"Galactosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0400004","label":"Long ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007413","label":"Nevus flammeus of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}