{"orpha":477993,"name":"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"],"definition":"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477993/","orphanet_url":"https://www.orpha.net/en/disease/detail/477993","names":{"fr":{"name":"Syndrome d'anomalies du palais-diastèmes multiples-dysmorphie faciale-retard de développement","synonyms":["Syndrome d'anomalies palatines-diastèmes multiples-dysmorphie faciale-retard de développement"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard global de développement, une hypotonie axiale, des anomalies du palais (y compris une fente palatine et/ou un palais arqué), une dysmorphie faciale (y compris un front proéminent, un hypertélorisme, des fentes palpébrales orientées vers le bas, une arête nasale large, des lèvres fines et des dents très espacées), et une petite taille. D'autres manifestations peuvent inclure des anomalies digitales (à type de brachydactylie, clinodactylie et d'hypoplasie unguéale), un pli palmaire unique, une hypertonie des membres inférieurs, une hypermobilité articulaire, ainsi que des anomalies oculaires et urogénitales."},"de":{"name":"Gaumenanomalien-weiter Zahnabstand-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom","synonyms":["Gaumenanomalien-multiple Diastemata-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom"]},"es":{"name":"Síndrome de anomalías palatales-dientes ampliamente espaciados-dismorfia facial-retraso del desarrollo","synonyms":["Síndrome de anomalías palatales-diastemas múltiples-dismorfia facial-retraso del desarrollo"],"definition":"El síndrome de anomalías palatales - dientes ampliamente espaciados - dismorfia facial - retraso del desarrollo, es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por retraso global del desarrollo, hipotonía axial, anomalías del paladar (que incluyen paladar hendido y/o paladar ojival), características faciales dismórficas (incluyendo frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal ancho, labios delgados y dientes muy espaciados), así como de talla baja. Otras manifestaciones adicionales pueden incluir anomalías digitales (tales como braquidactilia, clinodactilia y uñas de los pies hipoplásicas), pliegue palmar único, hipertonía en las extremidades inferiores, hipermovilidad articular, así como anomalías oculares y urogenitales."},"it":{"name":"Sindrome da anomalie del palato, denti iperdistanziati, dismorfismi facciali e ritardo dello sviluppo","definition":"La sindrome che associa anomalie del palato, denti iperdistanziati, dismorfismi facciali e ritardo dello sviluppo è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, ipotonia assiale, anomalie del palato (palatoschisi e/o palato ogivale e stretto), dismorfismi facciali (fronte prominente, ipertelorismo, rime palpebrali oblique verso il basso, sella nasale ampia, labbra sottili, denti iperdistanziati) e bassa statura. Altri segni clinici comprendono le anomalie delle dita (brachidattilia, clinodattilia, ipoplasia delle unghie dei piedi), la piega palmare unica, l'ipertono agli arti inferiori, l'ipermobilità articolare e le anomalie oculari e urogenitali."},"nl":{"name":"Anomalieën gehemelte - ver uit elkaar staande tanden - faciale dysmorfie - ontwikkelingsachterstand-syndroom","synonyms":["Anomalieën van gehemelte - meervoudige diastemen - faciale dysmorfie - ontwikkelingsachterstand-syndroom"],"definition":"Anomalieën van het verhemelte - ver uit elkaar staande tanden - faciale dysmorfie - ontwikkelingsachterstand-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door algehele ontwikkelingsachterstand, axiale hypotonie, afwijkingen van verhemelte (waaronder gespleten verhemelte en/of hoog en smal verhemelte), dysmorfe gelaatskenmerken (waaronder uitgesproken voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, brede neusbrug, dunne lippen en ver uit elkaar staande tanden), en kleine gestalte. Mogelijke bijkomende manifestaties zijn onder meer anomalieën van vingers/tenen (zoals brachydactylie, clinodactylie, en hypoplastische teennagels), één enkele handlijn, hypertonie van onderste ledematen, gewrichtshypermobiliteit, alsook oculaire en urogenitale anomalieën."},"pt":{"name":"Síndrome de anomalias do palato-diastemes múltiplos-dismorfia facial-alterações do desenvolvimento"},"pl":{"name":"Zespół wad podniebienia, szeroko rozstawionych zębów, dysmorfii twarzy i opóźnienia w rozwoju","synonyms":["Zespół wad podniebienia, mnogich diastem, dysmorfii twarzy i opóźnienia w rozwoju"],"definition":"*Zespół wad podniebienia, szeroko rozstawionych zębów, dysmorfii twarzy i opóźnienia w rozwoju to rzadki, genetycznie uwarunkowany zespół mnogich wad/zespół dysmorficzny, który charakteryzuje się całościowym opóźnieniem rozwoju, hipotonią osiową, wadami podniebienia (np. rozszczep podniebienia i/lub podniebienie wysokie i wąskie), cechami dysmorfii twarzy (np. wydatne czoło, hiperteloryzm, szpary powiekowe ustawione skośnie w dół, szeroki grzbiet nosa, wąskie usta i szeroko rozstawione zęby) oraz niskim wzrostem. Wśród dodatkowych objawów mogą wystąpić: wady palców (w tym brachydaktylia (krótkie palce), klinodaktylia (zakrzywione palce) i hipoplastyczne (słabo rozwinięte) paznokcie u stóp), pojedyncza bruzda dłoni, wzmożone napięcie mięśniowe w kończynach dolnych, nadmierna ruchomość stawów, a także wady oczu i układu moczowo-płciowego."},"cs":{"name":"Syndrom zahrnující anomálie patra, širokými trematy, faciální dysmorfismus a vývojové opoždění","synonyms":["Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome","Syndrom zahrnující anomálii patra, mnohočetná diastemata, obličejový dysmorfismus a opožděný vývoj"]},"uk":{"name":"Синдром аномалії піднебіння-широко розташованих зубів-дизморфізму обличчя-затримки розвитку","synonyms":["Синдром аномалії піднебіння - множинні діастеми - дизморфізм обличчя - затримки розвитку"],"definition":"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies."},"zh":{"name":"腭畸形-牙齿间距大-面部畸形-发育迟缓综合征","synonyms":["腭畸形-多发性纵裂-面部畸形-发育迟缓综合症"],"definition":"腭异常-宽牙距-面部畸形-发育迟缓综合征是一种罕见的、遗传性的多发性先天性畸形/畸形综合征，其特点是全面发育迟缓、轴性肌张力低下。腭部异常（包括腭裂和/或高而窄的腭部），面部畸形（包括突出的前额、器官间距过远、下睑裂、宽鼻梁、薄唇和宽齿距），以及身材矮小。其他表现还包括手指异常（如短指畸形、先天性指侧弯、脚趾甲发育不良）、单掌皱褶、下肢肌张力亢进、关节活动过度，以及眼部和泌尿生殖系统异常。"},"tr":{"name":"Damak anomalileri-geniş diş aralığı-fasiyal dismorfizmi-gelişme geriliği sendromu","synonyms":["Damak anomalileri-çoklu diastemata-fasiyal dismorfizm-gelişme geriliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"616728","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"KDM1A","name":"lysine demethylase 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24838796[PMID]_26656649[PMID]","hgnc":"29079","ensembl":"ENSG00000004487","omim":"609132","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24838796[PMID]_26656649[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24838796[PMID]_26656649[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-07","source":"24838796[PMID]_26656649[PMID]","terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011078","label":"Abnormality of canine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012081","label":"Enlarged cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011832","label":"Narrow nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}