{"orpha":3309,"name":"Tetrasomy 5p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isochromosome 5p"],"definition":"Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3309/","orphanet_url":"https://www.orpha.net/en/disease/detail/3309","names":{"fr":{"name":"Syndrome de tétrasomie 5p","synonyms":["Isochromosome 5p"],"definition":"Un syndrome rare d'anomalie chromosomique. Son phénotype est variable et se caractérise principalement par un retard du développement, un retard de croissance/une petite taille, une hypotonie, des convulsions, une ventriculomégalie, des anomalies au niveau des mains et des pieds (par ex. une clinodactylie, des orteils se chevauchant) et des changements de la pigmentation cutanée en mosaïque. Les patients peuvent aussi présenter une dysmorphie craniofaciale mineure (incluant une macrocéphalie, des fentes palpébrales obliques en haut et en dehors, un hypertélorisme, des auricules anormaux, une pointe nasale antéversée et une hypoplasie de l'étage moyen du visage)."},"de":{"name":"Tetrasomie 5p","synonyms":["Isochromosom 5p"],"definition":"Die Tetrasomie 5p ist eine seltene Chromosomenanomalie mit variablem Phänotyp, der hauptsächlich durch Entwicklungsverzögerung, Wachstumsverzögerung/Kleinwuchs Hypotonie, Krampfanfälle, Ventrikulomegalie, Hand- und Fußanomalien (z.B. Klinodaktylie, überlappende Zehen) und mosaikartige Pigmentveränderungen der Haut gekennzeichnet ist. Die Patienten können auch geringfügige dysmorphe kraniofaziale Merkmale aufweisen (u. a. Makrozephalie, aufsteigende Lidachsen, Hypertelorismus, abnorme Ohrmuscheln, antevertierte Nasenspitze, Mittelgesichtshypoplasie)."},"es":{"name":"Síndrome de tetrasomía 5p","synonyms":["Isocromosoma 5p"],"definition":"Es un síndrome por anomalía cromosómica poco frecuente con fenotipo variable caracterizado principalmente por retraso del desarrollo, retraso en el crecimiento / talla baja, hipotonía, convulsiones, ventriculomegalia, anomalías en manos y pies (p. ej., clinodactilia, dedos de los pies superpuestos) y alteraciones \"en mosaico\" de la pigmentación cutánea. Los afectados también pueden presentar leves rasgos craneofaciales dismórficos (incluyendo macrocefalia, fisuras palpebrales ascendentes, hipertelorismo, pabellones auriculares anómalos, punta nasal antevertida, hipoplasia mediofacial)."},"it":{"name":"Sindrome tetrasomia 5p","synonyms":["Isocromosoma 5p"],"definition":"La tetrasomia 5p è un'anomalia cromosomica rara; il quadro clinico è variabile ed è caratterizzato per lo più da ritardo dello sviluppo e della crescita, bassa statura, ipotonia, crisi epilettiche, ventricolomegalia, anomalie delle mani e dei piedi (clinodattilia, dita dei piedi sovrapposte) e alterazioni della pigmentazione della cute in mosaico. Inoltre, possono essere presenti dismorfismi craniofacciali sfumati (macrocefalia, rime palpebrali oblique verso l'alto, ipertelorismo, anomalie dei padiglioni auricolari, punta del naso anteversa, ipoplasia medio-facciale)."},"nl":{"name":"Tetrasomie 5p-syndroom","synonyms":["Isochromosoom 5p"],"definition":"Tetrasomie 5p is een zeldzaam syndroom met een chromosomale anomalie en met een variabel fenotype dat voornamelijk gekarakteriseerd wordt door ontwikkelingsachterstand, groeiretardatie/kleine gestalte, hypotonie, insulten, ventriculomegalie, hand- en voetanomalieën (e.g. clinodactylie, overlappende tenen) en mozaïek pigmentafwijkingen in de huid. Patiënten vertonen mogelijk ook geringe dysmorfe craniofaciale kenmerken (inclusief macrocefalie, opwaarts hellende ooglidspleten, hypertelorisme, abnormale oorschelpen, anteversie van de neusgaten, hypoplasie van het middengezicht)."},"pt":{"name":"Tetrassomia 5p"},"pl":{"name":"Zespół tetrasomii 5p","synonyms":["Izochromosom 5p"]},"cs":{"name":"Tetrazomie 5p","synonyms":["Izochromozom 5p"]},"uk":{"name":"Тетрасомія 5р","synonyms":["Ізохромосома 5p"],"definition":"Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)."},"zh":{"name":"5号染色体短臂四体","synonyms":["5号染色体短臂等臂染色体"]},"tr":{"name":"Tetrazomi 5p","synonyms":["İzokromozom 5p"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018028","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262725,"name":"Partial duplication/triplication of the short arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25424187[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-24","source":"22247041[PMID]_19938082[PMID]_11360274[PMID]_9021026[PMID]_7504882[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006931","label":"Pericallosal lipoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","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:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null}]}}