{"orpha":391372,"name":"FOXP1 Syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391372/","orphanet_url":"https://www.orpha.net/en/disease/detail/391372","names":{"fr":{"name":"Syndrome FOXP1","synonyms":["Syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée associé à FOXP1"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique au phénotype très variable, caractérisée typiquement par un retard de développement global léger à sévère, des troubles sévères de la parole et du langage, une déficience intellectuelle légère à sévère, une dysphagie, une hypotonie, une macrocéphalie relative à réelle, et des troubles de comportement pouvant inclure des caractéristiques autistiques, une hyperactivité et une labilité émotionnelle. La dysmorphie faciale se caractérise par un front large et proéminent, un hypertélorisme, des fentes palpébrales descendantes, un ptosis, un nez court et bulbeux avec une pointe large, un bord du vermillon épaissi, une bouche large et ouverte avec des commissures descendantes. Des malformations cérébrales, cardiaques, urogénitales et oculaires peuvent être associées."},"de":{"name":"FOXP1-Syndrom","synonyms":["Intelligenzminderung-ausgeprägte Sprachverzögerung-milde Dysmorphien-Syndrom, FOXP1-assoziiert"]},"es":{"name":"Síndrome FOXP1","synonyms":["Síndrome de discapacidad intelectual-retraso del habla grave-dismorfia leve asociado a FOXP1"],"definition":"El síndrome de discapacidad intelectual - retraso del habla grave - dismorfia leve es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, con un fenotipo muy variable. Por lo general, está caracterizado por retraso global del desarrollo de leve a grave, trastorno grave del habla y del lenguaje, discapacidad intelectual de leve a grave, disfagia, hipotonía, macrocefalia relativa a verdadera, y transtornos de conducta que pueden incluir rasgos autistas, hiperactividad y labilidad emocional. Los rasgos faciales suelen incluir frente ancha y prominente, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, ptosis, nariz bulbosa y corta con punta ancha, bermellón grueso, boca ancha y abierta con las comisuras inclinadas hacia abajo. Se pueden asociar malformaciones cerebrales, cardíacas, urogenitales y oculares."},"it":{"name":"Sindrome FOXP1","synonyms":["Sindrome dismorfismo lieve-ritardo grave del linguaggio-disabilità intellettiva correlata a FOXP1"],"definition":"La sindrome che associa la disabilità intellettiva, il grave ritardo del linguaggio e i dismorfismi lievi è una malattia genetica rara da disabilità intellettiva, caratterizzata da un quadro clinico molto variabile, che di solito comprende il ritardo dello sviluppo globale da lieve a grave, il grave deficit del linguaggio e della sua acquisizione, la disabilità intellettiva da lieve a marcata, la disfagia, l'ipotonia, la macrocefalia vera o relativa, e i problemi comportamentali (tratti autistici, iperattività, instabilità emotiva). I dismorfismi facciali caratteristici comprendono la fronte ampia e prominente, l'ipertelorismo, le rime palpebrali oblique verso il basso, la ptosi, il naso corto e globoso con punta grande, l'ispessimento della porzione mucosa delle labbra, la bocca grande ed aperta con angoli rivolti verso il basso. Può associarsi a malformazioni cerebrali, cardiache, urogenitali ed oculari."},"nl":{"name":"FOXP1-syndroom","synonyms":["FOXP1-gerelateerd intellectuele achterstand - ernstige spraakachterstand - milde dysmorfie-syndroom"],"definition":"Intellectuele achterstand - ernstige spraakachterstand - milde dysmorfie-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit met een zeer variabel fenotype dat doorgaans gekarakteriseerd wordt door milde tot ernstige algehele ontwikkelingsachterstand, ernstige taal- en spraakstoornis, milde tot ernstige intellectuele achterstand, dysfagie, hypotonie, relatieve tot echte macrocefalie, en gedragsproblemen waaronder mogelijk autistische kenmerken, hyperactiviteit, en stemmingswisselingen. De gezichtsvorm wordt doorgaans gekenmerkt door een breed en uitgesproken voorhoofd, hypertelorisme, naar beneden hellende ooglidspleten, ptose, een korte en bolle neus met brede punt, dikke vermiljoengrens, en een brede en open mond met naar beneden gekeerde mondhoeken. Malformaties van de hersenen, het hart, het urogenitale stelsel en de ogen kunnen geassocieerd zijn."},"pt":{"name":"Síndrome FOXP1","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-atraso grave de linguagem-dismorfia ligeira FOXP1-relacionada"]},"pl":{"name":"Zespół niepełnosprawność intelektualna-znaczne opóźnienie mowy-łagodny dysmorfizm","synonyms":["Zespół FOXP1"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, těžké opoždění vývoje řeči a mírný dysmorfismus","synonyms":["FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome"]},"uk":{"name":"Синдром FOXP1","synonyms":["FOXP1-повторна інтелектуальна недостатність-тяжка затримка мовлення-легкий синдром дизморфізму"],"definition":"A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated."},"zh":{"name":"智力障碍-重度言语延迟-轻度畸形综合征","synonyms":["FOXP1综合征"],"definition":"智力障碍-严重言语延迟-轻度畸形综合症是一种罕见的遗传性综合征候群智力障碍疾病，具有高度可变的表型，本病的典型特征是轻至重度的全面发育迟缓、严重的言语和语言障碍、轻至重度的智力障碍、吞咽困难、肌张力减退、相对至绝对大头畸形和可能的行为问题（包括自闭症特征、多动和情绪不稳定）。面部格式塔的典型特征是宽大突出的前额、眼距过宽，下斜睑裂、上睑下垂、短球状鼻伴宽鼻尖，唇红缘增厚，张口且嘴角向下。脑、心脏、泌尿生殖系统和眼睛畸形可能与本病相关。"},"tr":{"name":"Zihinsel yetersizlik-ağır konuşma gecikmesi-hafif dismorfizm sendromu","synonyms":["FOXP1 sendromu"]}},"xrefs":[{"source":"OMIM","code":"613670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925034","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12501","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":[{"symbol":"FOXP1","name":"forkhead box P1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24214399[PMID]","hgnc":"3823","ensembl":"ENSG00000114861","omim":"605515","loci":["3p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":48.0,"area":"Worldwide","status":"Validated","source":"28735298[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28735298[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-26","source":"26647308[PMID]_29090079[PMID]_28735298[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011823","label":"Chin with horizontal crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002236","label":"Frontal upsweep of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007301","label":"Oromotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","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:0000598","label":"Abnormality of the ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}