{"orpha":487825,"name":"Pierpont syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Plantar lipomatosis-facial dysmorphism-developmental delay syndrome","Plantar lipomatosis-unusual facies-developmental delay syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-487825/","orphanet_url":"https://www.orpha.net/en/disease/detail/487825","names":{"fr":{"name":"Syndrome de Pierpont","synonyms":["Syndrome de lipomatose plantaire-dysmorphie faciale-retard de développement"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisées par une hypotonie axiale après la naissance, des difficultés persistantes pour s'alimenter, un retard du développement global modéré à sévère, des convulsions (surtout des crises d'absence). On note également une persistance de l'aspect foetal des pulpes des doigts ainsi que des coussinets plantaires au niveau antéro-médian du talon, ainsi que des sillons palmaires et plantaires profonds. Les coussinets adipeux peuvent devenir moins proéminents et disparaître avec le temps. Les caractéristiques dysmorphiques cranio-faciales distinctes sont un visage large avec un front haut, une implantation haute des cheveux, des fentes palpébrales étroites en forme de croissant de lune lorsque le patient sourit, un large pont nasal et une pointe nasale avec des narines antéversées, une hypoplasie faciale moyenne légère, un philtrum long et lisse, un vermillon fin au niveau de la lèvre supérieure, de petites dents largement espacées et un occiput plat/une microcéphalie/brachycéphalie."},"de":{"name":"Pierpont-Syndrom","synonyms":["Plantare Lipomatose-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom","Plantare Lipomatose-ungewöhnliche Gesichtszüge-Entwicklungsverzögerung-Syndrom"],"definition":"Ein seltenes multiples kongenitales Anomalien-/Dysmorphie-Syndrom, das durch axiale Hypotonie nach der Geburt, anhaltende Fütterungsschwierigkeiten, mäßige bis schwere globale Entwicklungsverzögerung, Krampfanfälle (insbesondere Absence-Anfälle), fetale Ballen an den Fingerspitzen, anteromediale plantare Fettpolster an den Fersen und tiefe palmare und plantare Furchen gekennzeichnet ist.Im Laufe der Zeit können die Fettpolster weniger ausgeprägt werden und verschwinden. Zusätzliche Charakteristika sind ausgeprägte kraniofaziale Dysmorphien, insbesondere ein breites Gesicht mit hoher Stirn, ein hoher vorderer Haaransatz, schmale Lidspalten, die beim Lächeln die Form eines Halbmondes annehmen, ein breiter Nasenrücken und eine breite Nasenspitze mit antevertierten Nasenlöchern, eine leichte Mittelgesichtshypoplasie, ein langes, glattes Philtrum, dünne Oberlippenvermillion, kleine, weit auseinander stehende Zähne und ein flacher Hinterkopf/Mikrozephalie/Brachyzephalie."},"es":{"name":"Síndrome de Pierpont","synonyms":["Síndrome de lipomatosis plantar-dismorfia facial-retraso del desarrollo","Síndrome de lipomatosis plantar-facies inusual-retraso del desarrollo"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por hipotonía axial después del nacimiento, dificultades prolongadas en la alimentación, retraso del desarrollo global de moderado a grave, convulsiones (en particular crisis de ausencia), almohadillas digitales fetales, almohadillas de grasa plantar distintivas anteromediales al talón, surcos palmares y plantares profundos. Con el tiempo, las almohadillas de grasa pueden volverse menos prominentes y desaparecer. Los rasgos craneofaciales dismórficos distintivos incluyen rostro ancho con frente alta, línea anterior de implantación del cabello alta, fisuras palpebrales estrechas que toman forma de media luna creciente al sonreír, puente y punta nasal anchos y narinas antevertidas, hipoplasia mediofacial leve, filtrum largo y suave, bermellón del labio superior fino, dientes pequeños ampliamente espaciados y occipucio plano / microcefalia / braquicefalia."},"it":{"name":"Sindrome di Pierpont","definition":"La sindrome di Pierpont è una malattia rara del tessuto sottocutaneo, caratterizzata da ipotonia assiale che insorge dopo la nascita, difficoltà di alimentazione prolungate, ritardo dello sviluppo globale moderato-grave, crisi epilettiche (in particolare di assenza), cuscinetti fetali sui polpastrelli delle dita, cuscinetti di grasso plantari anteromediali nei talloni e profondi solchi palmari e plantari. Altri segni caratteristici sono i dismorfismi craniofacciali (viso largo con fronte alta, impianto arretrato dei capelli sulla fronte, rime palpebrali strette che assumono la forma di luna crescente quando il paziente sorride, sella e punta del naso ampie con narici anteverse, lieve ipoplasia medio-facciale, filtro lungo e piatto, porzione mucosa del labbro superiore sottile, denti piccoli ed iperdistanziati, occipite piatto/microcefalia/brachicefalia). Nel tempo, i cuscinetti di grasso possono ridursi e scomparire."},"nl":{"name":"Syndroom van Pierpont","synonyms":["Plantaire lipomatose - faciale dysmorfie - ontwikkelingsachterstand-syndroom","Plantaire lipomatose - ongewoon gelaat - ontwikkelingsachterstand-syndroom"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door axiale hypotonie na de geboorte, langdurige voedingsproblemen, matige tot ernstige algehele ontwikkelingsachterstand, insulten (vooral absence), foetale vingertopkussentjes, typische plantaire vetkussens anteromediaal van hiel, en diepe groeven op handpalmen en voetzolen. Na verloop van tijd kunnen de vetkussens minder uitgesproken worden en verdwijnen. Typische craniofaciale dysmorfe kenmerken zijn onder meer breed aangezicht met hoog voorhoofd, hoge voorste haarlijn, smalle ooglidspleten die sikkelvormig worden bij het glimlachen, brede neusbrug en neuspunt met anteversie van neusgaten, milde hypoplasie van middengezicht, lang en vlak filtrum, dun vermiljoen van bovenlip, kleine en ver uit elkaar staande tanden, en plat achterhoofd/microcefalie/brachycefalie."},"pt":{"name":"Síndrome de Pierpont"},"pl":{"name":"Zespół Pierpont","synonyms":["Zespół tłuszczkowatości podeszew stóp, niezwykłej twarzy i opóźnionego rozwoju","Zespół tłuszczkowatości podeszew stóp, dysmorfii twarzy i opóźnionego rozwoju"],"definition":"*Zespół Pierpont jest rzadkim zaburzeniem tkanki podskórnej charakteryzującym się po porodzie hipotonią osiową, przedłużonymi trudnościami w karmieniu, umiarkowanym do ciężkiego globalnym opóźnieniem rozwoju, napadami padaczkowymi (w szczególności napadami typu absence), wyniosłościami płodowymi na opuszkach palców, charakterystycznymi poduszeczkami tłuszczowymi na powierzchni podeszwy, głębokimi bruzdami na dłoniach oraz stopach. Dodatkowo występują odrębne/charakterystyczne cechy twarzoczaszki, zwłaszcza szeroka twarz z wysokim czołem, wysoka przednia linia włosów, wąskie szpary powiekowe, które przy uśmiechu przybierają kształt półksiężyca, szeroki grzbiet nosa i czubek nosa z zadartymi nozdrzami, nieznaczna hipoplazja środka twarzy, długa, gładka rynienka, cienka górna warga, małe, szeroko rozstawione zęby i płaska potylica/małogłowie/krótkogłowie. Z czasem poduszeczki tłuszczowe mogą stać się mniej widoczne i mogą zniknąć."},"cs":{"name":"Pierpontové syndrom","synonyms":["Syndrom zahrnující plantární lipomatózu, neobvyklou tvář a opoždění vývoje","Syndrom zahrnující plantární lipomatózu, faciální dysmorfismus a opoždění vývoje"]},"uk":{"name":"Синдром Пєрпона","synonyms":["Синдром підошовного ліпоматозу-лицевого дизморфізму- затримки розвитку","Синдром підошовного ліпоматозу - незвичайного обличчя - затримки розвитку"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly."},"zh":{"name":"皮尔庞特综合征","synonyms":["足底脂肪瘤样病-面部畸形-发育迟缓综合征"],"definition":"Pierpont综合征是一种罕见的皮下组织疾病，其特点是出生后轴性肌张力低下，长期喂养困难，中度至重度全面发育迟缓，癫痫发作(尤其是失神型发作)，指端胎垫，足跟前内侧有明显的足底脂肪垫，深掌沟和足底沟。此外，明显的颅面畸形特征，特别是宽脸高额、前发际线高，笑时睑裂狭小呈蛾眉月，鼻柱和鼻尖宽大伴鼻孔前倾，面中部轻度发育不良，人中长而平，薄上唇缘伴朱红色，牙齿小而间距宽，扁平枕骨/小头畸形/短头畸形等，也是此病特征。随着时间的推移，脂肪垫可能会变得不那么突明显且消失。"},"tr":{"name":"Pierpont sendromu","synonyms":["Plantar lipomatozis-alışılmadık yüz-gelişme geriliği sendromu","Plantar lipomatoz-fasiyal dismorfizm-gelişme geriliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"602342","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865644","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":[{"symbol":"TBL1XR1","name":"TBL1X/Y related 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26769062[PMID]_28562391[PMId]_21834056[PMID]","hgnc":"29529","ensembl":"ENSG00000177565","omim":"608628","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28562391[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28562391[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-10","source":"21834056[PMID]_26769062[PMID]_28562391[PMID]_30365874[PMID]","terms":[{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007367","label":"Atrophy/Degeneration affecting the central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007605","label":"Excessive wrinkling of palmar skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012043","label":"Pendular nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}