{"orpha":93932,"name":"FG syndrome type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Opitz-Kaveggia syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93932/","orphanet_url":"https://www.orpha.net/en/disease/detail/93932","names":{"fr":{"name":"Syndrome FG type 1","synonyms":["Syndrome d'Opitz-Kaveggia"],"definition":"Déficience intellectuelle syndromique rare liée à l'X caractérisée par un retard de développement et une déficience intellectuelle, une hypotonie précoce, une constipation, des difficultés à s'alimenter, une imperforation anale, un comportement caractéristique (affable, soucieux de faire plaisir) et des traits craniofaciaux dysmorphiques (macrocéphalie relative, front proéminent et implantation haute des cheveux, hypertélorisme, fentes palpébrales inclinées vers le bas et bouche qui reste ouverte). Parmi les autres manifestations figurent, entre autres, une agénésie partielle du corps calleux, une surdité de perception, une laxité articulaire, des anomalies cardiaques et des malformations des doigts et des orteils."},"de":{"name":"FG-Syndrom Type 1","synonyms":["Opitz-Kaveggia-Syndrom"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch Entwicklungsverzögerung und intellektuelles Defizit, frühe Hypotonie, Verstopfung, Fütterungsprobleme, einen perforierten Anus, charakteristisches Verhalten (leutselig, anhänglich) und dysmorphe kraniofaziale Merkmale (wie relative Makrozephalie, prominente Stirn mit nach oben gerichteten Haaren, Hypertelorismus, schräg abwärts verlaufende Lidspalten und einen offenen Mund) gekennzeichnet ist. Weitere Merkmale sind unter anderem eine partielle Agenesie des Corpus callosum, Schallempfindungsschwerhörigkeit, laxe Gelenke, Herzanomalien und Anomalien der Finger und Zehen."},"es":{"name":"Síndrome FG tipo 1","synonyms":["Síndrome de Opitz-Kaveggia"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X poco frecuente que se caracteriza por retraso del desarrollo y discapacidad intelectual, hipotonía precoz, estreñimiento, problemas de alimentación, ano imperforado, rasgos conductuales característicos (personas afables, deseosas de agradar) y rasgos craneofaciales dismórficos (como macrocefalia relativa, frente prominente con pelo frontal levantado, hipertelorismo, fisuras palpebrales descendentes y boca abierta). Otras manifestaciones incluyen: agenesia parcial del cuerpo calloso, pérdida auditiva neurosensorial, laxitud articular, anomalías cardíacas y anomalías de los dedos de las manos y los pies, entre otras."},"it":{"name":"Sindrome FG, tipo 1","synonyms":["Sindrome di Opitz-Kaveggia"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da ritardo dello sviluppo e disabilità intellettiva, ipotonia ad esordio precoce, costipazione, difficoltà di alimentazione, ano imperforato, comportamento caratteristico (affabile, desideroso di compiacere) e dismorfismi craniofacciali (macrocefalia relativa, fronte prominente con capelli raccolti sulla fronte, ipertelorismo, rime palpebrali oblique verso il basso e bocca aperta). I pazienti possono presentare anche agenesia parziale del corpo calloso, sordità neurosensoriale, lassità articolare, cardiopatie e anomalie delle dita delle mani e dei piedi."},"nl":{"name":"FG-syndroom type 1","synonyms":["Syndroom van Opitz-Kaveggia"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door ontwikkelingsachterstand en intellectuele achterstand, vroege hypotonie, constipatie, voedingsproblemen, anusatresie, typisch gedrag (minzaam, willen behagen), en dysmorfe craniofaciale kenmerken (zoals relatieve macrocefalie, prominent voorhoofd met rechtstaand voorste haar, hypertelorisme, schuin naar beneden hellende ooglidspleten, en open mond). Bijkomende manifestaties zijn onder meer partiele agenesie van corpus callosum, sensorineuraal gehoorverlies, gewrichtslaxiteit, hartanomalieën, en afwijkingen van vingers en tenen."},"pt":{"name":"Síndrome FG tipo 1"},"pl":{"name":"Zespół FG typu 1","synonyms":["Zespół Opitza i Kaveggia"]},"cs":{"name":"FG syndrom typ 1","synonyms":["Opitz-Kaveggiové syndrom"]},"uk":{"name":"Синдром ФГ, тип 1","synonyms":["Синдром Опітца-Кавеггіа"],"definition":"A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others."},"zh":{"name":"FG综合征1型","synonyms":["Opitz-Kaveggia综合征"]},"tr":{"name":"FG sendromu tip 1","synonyms":["Opitz-Kaveggia sendromu"]}},"xrefs":[{"source":"OMIM","code":"305450","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":"156523187"},{"source":"MONDO","code":"0010590","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2317","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":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"MED12","name":"mediator complex subunit 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301719[PMID]_17334363[PMID]","hgnc":"11957","ensembl":"ENSG00000184634","omim":"300188","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"17574621[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"17574621[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-10","source":"19938245[PMID]_4365204[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002250","label":"Abnormal large intestine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001837","label":"Broad toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002236","label":"Frontal upsweep of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011090","label":"Fused teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005852","label":"Limited elbow extension and supination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004785","label":"Malrotation of colon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004492","label":"Widely patent fontanelles and sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040022","label":"Clinodactyly of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009762","label":"Facial wrinkling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}