{"orpha":709,"name":"Peters plus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Krause-Kivlin syndrome","Krause-van Schooneveld-Kivlin syndrome","Peters anomaly with short limb dwarfism"],"definition":"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-709/","orphanet_url":"https://www.orpha.net/en/disease/detail/709","names":{"fr":{"name":"Syndrome de Peters plus","synonyms":["Syndrome d'anomalie de Peters-nanisme","Syndrome de Krause-Kivlin","Syndrome de Krause-van Schooneveld-Kivlin"],"definition":"Le syndrome de Peters plus est une anomalie syndromique du développement de l'oeil transmise selon un mode autosomique récessif. Son phénotype est variable et comprend une anomalie de Peters et d'autres anomalies de la chambre antérieure de l'oeil, des membres courts, des anomalies des membres (rhizomélie et brachydactylie), un polymosphisme facial (lèvre supérieure en forme d'arc de cupidon, fentes palpébrales courtes), une fente labiale/palatine, ainsi qu'un retard de développement et un déficit intellectuel légers à sévères. Les manifestations additionnelles retrouvées chez certains patients incluent des anomalies cardiaques congénitales (hypoplasie du coeur gauche, absence de la veine pulmonaire droite, valve pulmonaire bicuspide), des anomalies génito-urinaires (hydronéphrose, hypoplasie rénale, duplication rénale et urétérale, reins dysplasiques multikystiques, reins glomérulokystiques) et une hypothyroïdie congénitale."},"de":{"name":"Peters plus-Syndrom","synonyms":["Krause-Kivlin-Syndrom","Krause-van Schooneveld-Kivlin-Syndrom","Peters-Anomalie - Kleinwuchs"],"definition":"Das Peters-Plus-Syndrom ist ein autosomal-rezessiv vererbter syndromaler Entwicklungsdefekt des Auges, der durch einen variablen Phänotyp gekennzeichnet ist. Dieser umfasst die Peters-Anomalie (s. dort) und andere Anomalien des vorderen Augenabschnitts, kurze Gliedmaßen, Extremitätenanomalien (d.h. Rhizomelie und Brachydaktylie), charakteristische Gesichtszüge (Oberlippe mit Amorbogen, kurze Palpebralfissuren), Lippen-/Gaumenspalte und leichte bis schwere Entwicklungsverzögerung/Intelligenzminderung. Andere assoziierte Anomalien, die bei einigen Patienten berichtet werden, sind angeborene Herzfehler (Hypoplastisches Linksherzsyndrom, Fehlen der rechten Lungenvene, bikuspide Pulmonalklappe), urogenitale Anomalien (Hydronephrose, renale Hypoplasie, Nieren- und Harnröhrenduplikation, multizystische dysplastische Nieren, glomerulozystische Nieren) und angeborene Hypothyreose."},"es":{"name":"Síndrome de Peters plus","synonyms":["Anomalía de Peter con enanismo de extremidades cortas","Síndrome de Krause-Kivlin","Síndrome de Krause-van Schooneveld-Kivlin"],"definition":"El síndrome de Peters plus es un defecto sindrómico del desarrollo ocular (consulte este término) de herencia autosómica recesiva. Se caracteriza por un fenotipo variable incluyendo la anomalía de Peters (consulte este término) y otras anomalías oculares de la cámara anterior, extremidades cortas o anomalías de las mismas (por ejemplo, rizomelia y braquidactilia), rasgos faciales característicos (labio superior en arco de cupido, fisuras palpebrales cortas), paladar hendido y labio leporino, y discapacidad intelectual / retraso en el desarrollo de leve a grave. Otras anomalías asociadas descritas en algunos pacientes incluyen defectos congénitos cardiacos (tales como corazón izquierdo hipoplásico, ausencia de la vena pulmonar derecha, válvula pulmonar bicúspide), anomalías genitourinarias (hidronefrosis, hipoplasia renal, duplicación renal y ureteral, riñones displásicos multiquísticos y riñones glomeruloquísticos) y el hipotiroidismo congénito."},"it":{"name":"Sindrome di Peters plus","synonyms":["Anomalia di Peters con nanismo ad arti corti","Sindrome di Krause-Kivlin","Sindrome di Krause-van Schooneveld-Kivlin"],"definition":"La Sindrome di Peter plus è un difetto sindromico dello sviluppo dell'occhio (si veda questo termine) a trasmissione autosomica recessiva, caratterizzato da un quadro clinico variabile che comprende l'anomalia di Peters (si veda questo termine) e altri difetti della camera anteriore dell'occhio, arti corti, anomalie degli arti (ossia rizomelia e brachidattilia), caratteristici dismorfismi del viso (labbro superiore con arco di cupido, rime palpebrali corte), labioschisi/palatoschisi e ritardo dello sviluppo/disabilità cognitiva da lieve a grave. In alcuni pazienti possono essere presenti cardiopatie congenite (cuore sinistro ipoplastico, assenza della vena polmonare destra, valvola polmonare bicuspide), anomalie dell'apparato genito-urinario (idronefrosi, ipoplasia renale, duplicazione del rene e dell'uretere, reni multicistici displastici, malattia renale glomerulocistica) e ipotiroidismo congenito."},"nl":{"name":"Syndroom van Peters-plus","synonyms":["Anomalie van Peters met dwerggroei met korte ledematen","Syndroom van Krause-Kivlin","Syndroom van Krause-van Schooneveld-Kivlin"],"definition":"Peters-plussyndroom is een autosomaal recessief overerfbaar, syndromaal ontwikkelingsdefect van het oog (zie deze term) gekenmerkt door een variabel fenotype waaronder Petersanomalie (zie deze term) en andere afwijkingen van de voorste oogkamer, korte ledematen, afwijkingen van de ledematen (rhizomelie en brachydactylie), karakteristieke gelaatskenmerken (bovenlip met cupidoboog, korte oogspleten), gespleten lip/gehemelte en milde tot ernstige ontwikkelingsachterstand/verstandelijke beperking. Andere geassocieerde afwijkingen die gemeld werden bij sommige patiënten omvatten aangeboren hartdefecten (hypoplastisch linkerhart, afwezigheid van de rechterlongader, bicuspide pulmonaalklep), urogenitale afwijkingen (hydronefrose, renale hypoplasie, renale en ureterale duplicatie, multicystische dysplastische nieren, glomerulocystische nieren) en congenitale hypothyreoïdie."},"pt":{"name":"Síndrome Peters-plus","synonyms":["Anomalia de Peters com nanismo de membros curtos"]},"pl":{"name":"Zespół Petersa-plus","synonyms":["Anomalia Petersa z karłowatością krótkich kończyn","Zespół Krause'a i Kivlina","Zespół Krause'a, van Schoonevelda i Kivlina"],"definition":"Zespół Peters-plus to wady rozwojowe oka, dziedziczone w sposób autosomalny recesywny, charakteryzujące się zmiennym fenotypem, w tym anomalią Petersa oraz innymi anomaliami przedniej komory oka, krótkimi kończynami i nieprawidłową ich budową (tzn. rizomelią i brachydaktylią), charakterystycznymi rysami twarzy (górna warga w kształcie łuku Kupidyna, krótkie szpary powiekowe), rozszczepem wargi/podniebienia oraz łagodnym do ciężkiego opóźnienie w rozwoju/ niepełnosprawnością intelektualną. Inne nieprawidłowości opisywane u niektórych pacjentów obejmują wrodzone wady serca (tzn. niedorozwój lewego serca, brak żyły płucnej prawej, dwupłatkową zastawkę pnia płucnego), anomalie układu moczowo-płciowego (wodonercze, niedorozwój nerek, zdwojenie nerek i moczowodów, dysplazja wielotorbielowata nerek, torbielowatość kłębuszków nerkowych) oraz wrodzoną niedoczynność tarczycy."},"cs":{"name":"Syndrom Peters-plus","synonyms":["Krauseho-Kivlinův syndrom","Krauseho-van Schooneveldův-Kivlinův syndrom","Petersova anomálie s trpaslictvím s krátkými končetinami","Krause-Kivlinův syndrom","Krause-van Schooneveld-Kivlinův syndrom"]},"uk":{"name":"Синдром Петерса плюс","synonyms":["Синдром Краузе-Ківліна","Синдром Краузе-ван-Шуневельда-Ківліна","Аномалія Петерса з карликовістю коротких кінцівок"],"definition":"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism."},"zh":{"name":"Peters Plus综合征","synonyms":["Peters畸形伴短肢侏儒"]},"tr":{"name":"Peters Plus sendromu","synonyms":["Krause-Kivlin sendromu","Krause-van Schooneveld-Kivlin sendromu","Kısa ekstremite cücelikli Peters anomalisi"]}},"xrefs":[{"source":"OMIM","code":"261540","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"935058752"},{"source":"MONDO","code":"0009856","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537617","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796012","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8422","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3105,"name":"Robinow-like syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309505,"name":"Disorder of fucoglycosan synthesis","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"B3GLCT","name":"beta 3-glucosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301637[PMID]","hgnc":"20207","ensembl":"ENSG00000187676","omim":"610308","loci":["13q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"20301637[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301637[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18798333[PMID]_19796186[PMID]_3189394[PMID]_1856836[PMID]_12119218[PMID]","terms":[{"hpo":"HP:0007833","label":"Anterior chamber synechiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000659","label":"Peters anomaly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","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:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","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:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008569","label":"Microtia, second degree","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100819","label":"Intestinal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030968","label":"Abnormal pulmonary vein morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005182","label":"Bicuspid pulmonary valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very rare (<4-1%)","criteria":null}]}}