{"orpha":1738,"name":"Trisomy 4p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 4p","Duplication of the short arm of chromosome 4","Trisomy of the short arm of chromosome 4"],"definition":"Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1738/","orphanet_url":"https://www.orpha.net/en/disease/detail/1738","names":{"fr":{"name":"Syndrome de trisomie 4p","synonyms":["Duplication 4p","Trisomie du bras court du chromosome 4"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 4. Le phénotype est très variable, et se présente classiquement par un retard de croissance pré- et post-natale, un retard de développement psychomoteur et une dysmorphie craniofaciale (microcéphalie, glabelle proéminente, hypertélorisme, larges oreilles avec hélix et anti-hélix anormaux, nez bulbeux avec un pont nasal plat ou déprimé, long philtrum, rétrognathie avec un menton en pointe). Les signes additionnels incluent des malformations squelettiques (pieds en piolet, arachnodactylie, camptodactylie) et rénales, des anomalies cardiaques, oculaires, ainsi que des anomalies génitales chez les patients masculins."},"de":{"name":"Trisomie 4p","synonyms":["Chromosom 4, Trisomie des kurzen Arms","Duplikation 4p","Chromosom 4, Duplikation des kurzen Arms"],"definition":"Trisomie 4p ist eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des kurzen Arms von Chromosom 4 resultiert und einen sehr variablen Phänotyp aufweist. Das Syndrom ist typischerweise charakterisiert durch prä- und postnatale Wachstumsverzögerung, psychomotorische Entwicklungsverzögerung und kraniofaziale Dysmorphie (Mikrozephalie, prominente Glabella, Hypertelorismus, vergrößerte Ohren mit abnormaler Helix und Antihelix, Knollennase mit flachen oder abgesenkten Nasenrücken, langes Philtrum, Retrognathie mit spitzem Kinn). Weitere Merkmale sind Skelettanomalien (Tintenlöscherfuß, Arachnodaktylie, Kamptodaktylie) und Nierenfehlbildungen, Herzfehler, Augenanomalien sowie Genitalanomalien bei männlichen Betroffenen."},"es":{"name":"Síndrome de trisomía 4p","synonyms":["Duplicación 4p","Duplicación del brazo corto del cromosoma 4","Trisomía del brazo corto del cromosoma 4"],"definition":"La trisomía 4p es una anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo corto del cromosoma 4. Presenta un fenotipo altamente variable, caracterizado típicamente por retraso del crecimiento pre- y postnatal, retraso del desarrollo psicomotor y dismorfia craneofacial (microcefalia, glabela prominente, hipertelorismo, orejas agrandadas con hélice y antihélice anómalas, nariz bulbosa con puente nasal plano o deprimido, surco nasolabial largo, retrognatia con barbilla puntiaguda). Otras características adicionales incluyen malformaciones esqueléticas (pie en mecedora, aracnodactilia, camptodactilia) y renales, defectos cardíacos, anomalías oculares y genitales anómalos en varones."},"it":{"name":"Sindroe trisomia 4p","synonyms":["Duplicazione 4p","Duplicazione del braccio corto del cromosoma 4","Trisomia del braccio corto del cromosoma 4"],"definition":"La trisomia 4p è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio corto del cromosoma 4. Il quadro clinico è molto variabile, perlopiù è caratterizzato da ritardo della crescita pre- e post-natale, ritardo dello sviluppo psicomotorio e dismorfismi craniofacciali (microcefalia, glabella prominente, ipertelorismo, orecchie grandi con anomalie dell'elice e dell'anti-elice, naso globoso con sella nasale piatta o infossata, filtro lungo, retrognazia con mento appuntito). Altri segni clinici sono le malformazioni scheletriche (piedi ''a piccozza'', aracnodattilia, camptodattilia) e renali, le cardiopatie, le anomalie oculari e dei genitali nei maschi."},"nl":{"name":"Trisomie 4p-syndroom","synonyms":["Duplicatie 4p","Duplicatie van de korte arm van chromosoom 4","Trisomie van de korte arm van chromosoom 4"],"definition":"Trisomie 4p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 4, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door pre- en postnatale groeiretardatie, psychomotorische ontwikkelingsachterstand en craniofaciale dysmorfie (microcefalie, uitgesproken glabella, hypertelorisme, grote oren met abnormale helix en antihelix, bolle neus met platte of ingedrukte neusbrug, lang filtrum, retrognathie met puntige kin). Bijkomende kenmerken zijn onder meer malformaties van het skelet (schommelvoeten, arachnodactylie, camptodactylie) en de nieren, hartdefecten, oculaire afwijkingen en abnormale genitaliën bij mannen."},"pt":{"name":"Trissomia 4p","synonyms":["Duplicação 4p","Trissomia 4p"]},"pl":{"name":"Zespół trisomii 4p","synonyms":["Duplikacja 4p","Duplikacja krótkiego ramienia chromosomu 4","Trisomia krótkiego ramienia chromosomu 4"]},"cs":{"name":"Trizomie 4p","synonyms":["Duplikace 4p","Duplikace krátkého raménka chromozomu 4","Trizomie krátkého raménka chromozomu 4"]},"uk":{"name":"Трисомія 4р","synonyms":["Дуплікація 4p","Дуплікація короткого плеча хромосоми 4","Трисомія короткого плеча хромосоми 4"],"definition":"Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males."},"zh":{"name":"4号染色体短臂三体","synonyms":["4号染色体短臂三体"]},"tr":{"name":"Trizomi 4p","synonyms":["Duplikasyon 4p","4. kromozomun kısa kolunun trizomisi","4. kromozomun kısa kolunun duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.31","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015767","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265405","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6091","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262716,"name":"Partial duplication of the short arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":85.0,"area":"Worldwide","status":"Validated","source":"12239731[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12239731[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Occasional (29-5%)","criteria":null}]}}