{"orpha":96171,"name":"Ring chromosome 2 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 2","Ring chromosome 2"],"definition":"Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96171/","orphanet_url":"https://www.orpha.net/en/disease/detail/96171","names":{"fr":{"name":"Syndrome du chromosome 2 en anneau","synonyms":["Chromosome 2 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique de phénotype très variable. Il se caractérise principalement par un retard de croissance intra-utérine, un retard de croissance staturo-pondérale, un retard de développement, une hypotonie, une légère dysmorphie faciale (incluant une microcéphalie, une front court, des fentes palpébrales obliques en haut et en dehors, un hypertélorisme, des plis épicanthiques, un large pont nasal, une large pointe nasale, un long philtrum, une lèvre supérieure fine, une micrognathie, un cou court), des anomalies squelettiques (comme une cyphose, une brachydactylie, une clinodactylie, des pieds bots varus équins) et des signes dermatologiques (taches café au lait). Les patients peuvent aussi présenter des communications septoventriculaires et des anomalies génitales (comme une hypoplasie génitale, un phimosis, une cryptorchidie)."},"de":{"name":"Ringchromosom-2-Syndrom","synonyms":["Ringchromosom 2"],"definition":"Das Ringchromosom-2-Syndrom ist eine seltene Chromosomenanomalie mit sehr variablem Phänotyp. Zu den typischen Kennzeichen des Syndroms gehören intrauterine Wachstumsverzögerung, Gedeihstörung, Entwicklungsverzögerung, Hypotonie, leichte dysmorphe Merkmale (inkl. Mikrozephalie, kurze Stirn, aufsteigende Lidachsen, Hypertelorismus, Epikanthusfalten, breiter Nasenrücken, breite Nasenspitze, langes Philtrum, dünne Oberlippe, Mikrognathie, kurzer Hals), Skelettanomalien (z. B. Kyphose, Brachydaktylie, Klinodaktylie, Talipes equinovarus) und dermatologische Auffälligkeiten (z. B. Café-au-lait-Flecken). Ventrikelseptumdefekte und Genitalanomalien (z. B. Genitalhypoplasie, Phimose, Kryptorchismus) wurden ebenfalls beschrieben."},"es":{"name":"Síndrome del cromosoma 2 en anillo","synonyms":["Anillo 2","Cromosoma 2 en anillo"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente con un fenotipo altamente variable caracterizado principalmente por retraso en el crecimiento intrauterino, retraso en el desarrollo, fallo de medro, hipotonía, características dismórficas leves (incluyendo microcefalia, frente corta, fisuras palpebrales ascendentes, hipertelorismo, pliegues epicánticos, puente y punta nasal anchos, filtrum largo, labio superior delgado, micrognatia, cuello corto), anomalías esqueléticas (p. ej., cifosis, braquidactilia, clinodactilia, talipes equinovarus) y características dermatológicas (p. ej., manchas café con leche). Los pacientes también pueden presentar defectos ventriculoseptales y anomalías genitales (p. ej., hipoplasia genital, fimosis, criptorquidia)."},"it":{"name":"Cromosoma 2 ad anello","definition":"Il cromosoma 2 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo della crescita prenatale, ritardo dello sviluppo, ipotonia, dismorfismi sfumati (microcefalia, fronte piccola, rime palpebrali oblique verso l'alto, ipertelorismo, epicanto, sella nasale e punta del naso larghe, filtro lungo, labbro superiore sottile, micrognazia, collo corto), anomalie scheletriche (cifosi, brachidattilia, clinodattilia, piedi equino-vari) e segni cutanei (macchie caffè-latte). Inoltre, i pazienti possono presentare difetti del setto ventricolare e anomalie dei genitali (ipoplasia, fimosi, criptorchidismo)."},"nl":{"name":"Ringchromosoom 2-syndroom","synonyms":["Ring 2","Ringchromosoom 2"],"definition":"Ringchromosoom 2 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door intra-uteriene groeiretardatie, groeiachterstand, ontwikkelingsachterstand, hypotonie, milde dysmorfe kenmerken (inclusief microcefalie, kort voorhoofd, opwaarts hellende ooglidspleten, hypertelorisme, epicanthusplooien, brede neusbrug, brede neuspunt, lang filtrum, dunne bovenlip, micrognathie, korte hals/nek), skeletanomalieën (e.g. kyfose, brachydactylie, clinodactylie, talipes equinovarus) en dermatologische kenmerken (i.e. café-au-lait vlekken). Patiënten vertonen mogelijk ook ventrikelseptumdefecten en genitale afwijkingen (e.g. genitale hypoplasie, fimose, cryptorchidie)."},"pt":{"name":"Cromossoma 2 em anel"},"pl":{"name":"Chromosom pierścieniowy 2","synonyms":["Ring 2","Ring chromosome 2"]},"cs":{"name":"Ring chromozom 2","synonyms":["Kruhový chromozom 2"]},"uk":{"name":"Синдром кільцевої хромосоми 2","synonyms":["Кільце 2","Кільцева хромосома 2"],"definition":"Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)."},"zh":{"name":"2号环状染色体综合征","synonyms":["2号环状染色体"],"definition":"2号环状染色体综合征是一种罕见的染色体异常综合征，具有高度可变的表型，主要表现为宫内生长迟缓、发育迟缓、肌张力减退、轻度畸形特征（包括小头畸形、短额、上睑裂、眼间距宽、内眦赘皮、宽鼻梁、宽鼻尖、长人中、上唇薄、小颌畸形、短颈）、骨骼异常（如脊柱后凸、短指/趾畸形、指/趾侧弯畸形、马蹄内翻足）和皮肤特征（如牛奶咖啡斑）。患者还可能出现心室间隔缺损和生殖器异常（如生殖器发育不全、包茎、隐睾）。"},"tr":{"name":"Halka kromozom 2 sendromu","synonyms":["Halka 2","Halka kromozomu 2"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1589926787"},{"source":"MONDO","code":"0019903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707448","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10837","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"25997743[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25997743[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-03","source":"25774222[PMID]_25774222[PMID]_23895799[PMID]","terms":[{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","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:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}