{"orpha":96177,"name":"Ring chromosome 15 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 15","Ring chromosome 15"],"definition":"A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96177/","orphanet_url":"https://www.orpha.net/en/disease/detail/96177","names":{"fr":{"name":"Syndrome du chromosome 15 en anneau","synonyms":["Chromosome 15 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique, se manifestant par un phénotype très variable. Il se caractérise par un retard de croissance pré- et/ou post-natale, un déficit intellectuel variable, une petite taille, une dysmorphie faciale (microcéphalie, visage triangulaire, bosse frontale, hypertélorisme, anomalies des oreilles, large pont nasal, palais ogival, micrognathie), des anomalies des mains et des pieds (brachydactylie, clinodactylie, syndactylie) et de multiples taches hyperpigmentées et/ou hypopigmentées. Les phénotypes sévères présentent des anomalies cardiaques et/ou des malformations rénales. Les signes additionnels incluent une hypotonie, un retard de la parole, des pieds bots équinovarus et des anomalies génitales (cryptorchidie et hypospadias)."},"de":{"name":"Ringchromosom-15-Syndrom","synonyms":["Ringchromosom 15"],"definition":"Eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der durch prä- und/oder postnatale Wachstumsretardierung, variable Intelligenzminderung, Kleinwuchs, dysmorphe Merkmale (Mikrozephalie, Dreiecksgesicht, vorgewölbter Stirn, Hypertelorismus, Ohranomalie, breiter Nasenrücken, stark gewölbter Gaumen, Mikrognathismus), Hand- und Fußanomalien (z. B. Brachydaktylie, Klinaktylie, Synaktylie) und multiple hyper- und/oder hypopigmentierte Flecken gekennzeichnet ist. Schwere Phänotypen weisen kardiale Anomalien und/oder Nierenfehlbildungen auf. Weitere berichtete Merkmale sind Hypotonie, Sprachverzögerung, Talipes equinovarus und genitale Anomalien (Kryptorchismus und Hypospadie)."},"es":{"name":"Síndrome del cromosoma 15 en anillo","synonyms":["Anillo 15","Cromosoma 15 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado por retraso del crecimiento pre- y/o postnatal, discapacidad intelectual de grado variable, talla baja, rasgos dismórficos (microcefalia, facies triangular, frente prominente, hipertelorismo, anomalías auriculares, puente nasal ancho, paladar muy arqueado, micrognatia), anomalías de manos y pies (como braquidactilia, clinodactilia, sindactilia) y múltiples manchas cutáneas hiper- e/o hipopigmentadas. Los fenotipos graves presentan anomalías cardíacas y/o malformaciones renales. Otras características descritas incluyen hipotonía, retraso del habla, talipes equinovarus y anomalías genitales (criptorquidia e hipospadias)."},"it":{"name":"Cromosoma 15 ad anello","definition":"Il cromosoma 15 ad anello è un'anomalia cromosomica rara associata ad un quadro clinico molto variabile, con ritardo della crescita pre- e/o post-natale, disabilità intellettiva di grado variabile, bassa statura, dismorfismi (microcefalia, viso triangolare, fronte bombata, ipertelorismo, anomalie delle orecchie, sella nasale larga, palato ogivale e micrognazia), anomalie delle mani e dei piedi (brachidattilia, clinodattilia, sindattilia) e aree iperpigmentate e/o ipopigmentate multiple. I pazienti con quadri clinici più gravi presentano cardiopatie e/o malformazioni renali. Altri segni clinici sono l'ipotonia, il ritardo del linguaggio, il piede equino-varo e le anomalie dei genitali (criptorchidismo e ipospadia)."},"nl":{"name":"Ringchromosoom 15-syndroom","synonyms":["Ring 15","Ringchromosoom 15"],"definition":"Een zeldzaam syndroom met een chromosomale anomalie en een zeer variabel fenotype, gekenmerkt door pre- en/of postnatale groeiretardatie, variabele intellectuele achterstand, kleine gestalte, dysmorfe kenmerken (microcefalie, driehoekig gelaat, boller voorhoofd, hypertelorisme, ooranomalie, brede neusbrug, hoog gebogen gehemelte, micrognathie), hand- en voetanomalieën (brachydactylie, clinodactylie, syndactylie), en multipele hyper- en/of hypogepigmenteerde vlekken. Ernstige fenotypes vertonen hartafwijkingen en/of niermalformaties. Andere gerapporteerde kenmerken zijn onder meer hypotonie, spraakachterstand, talipes equinovarus (klompvoet), en genitale anomalieën (cryptorchidie en hypospadie)."},"pt":{"name":"Cromossoma 15 em anel"},"pl":{"name":"Chromosom pierścieniowy 15","synonyms":["Ring 15","Ring chromosome 15"],"definition":"Rzadki zespół anomalii chromosomowych o wysoce zmiennym fenotypie, charakteryzujący się przed- i/lub poporodowym opóźnieniem wzrostu, niepełnosprawnością intelektualną, niskim wzrostem, cechami dysmorfii (małogłowie, trójkątna twarz, wydatne czoło, hiperteloryzm, wady uszu, szeroka nasada nosa, wysoko wysklepione podniebienie, małożuchwie), wady dłoni i stóp (np. brachydaktylia, klinodaktylia, syndaktylia) oraz liczne zmiany z przebarwieniowe i/lub odbarwieniowe. W zespole o ciężkim przebiegu mogą wystąpić wady serca i/lub nerek. Zgłaszano także obniżone napięcie mięśniowe, opóźnienie mowy, stopę końsko-szpotawą i wady narządów płciowych (wnętrostwo i spodziectwo)."},"cs":{"name":"Ring chromozom 15","synonyms":["Kruhový chromozom 15"]},"uk":{"name":"Синдром кільцевої хромосоми 15","synonyms":["Кільце 15.","Кільцева хромосома 15"],"definition":"A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias)."},"zh":{"name":"15号环状染色体综合征","synonyms":["15号环状染色体"],"definition":"15号环状染色体是一种罕见的染色体异常综合征，具有高度多变的表型，其特征为出生前和/或出生后生长迟缓、可变的智力障碍、身材矮小、畸形特征（小头畸形、三角脸、额头突出、眼间距宽、耳朵异常、鼻梁宽、高腭弓、小颌畸形）、手足异常（例如短指/趾畸形、指/趾侧弯畸形、并指/趾畸形）、多发性色素沉着和/或色素减退。严重者表型伴心脏异常和/或肾畸形。其他被报道的特征包括肌张力减退、言语发育迟缓、马蹄内翻足和生殖器异常（隐睾和尿道下裂）。"},"tr":{"name":"Halka kromozom 15 sendromu","synonyms":["Halka 15","Halka kromozomu 15"]}},"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":"1349342144"},{"source":"MONDO","code":"0019908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795855","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1328","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":50.0,"area":"Worldwide","status":"Validated","source":"16267671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16267671[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-24","source":"34747577[PMID]_30442194[PMID]","terms":[{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003561","label":"Birth length less than 3rd percentile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","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:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}