{"orpha":96201,"name":"X small rings syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96201/","orphanet_url":"https://www.orpha.net/en/disease/detail/96201","names":{"fr":{"name":"Syndrome des petits anneaux du x","definition":"Une anomalie structurelle rare du chromosome X. Le phénotype est très variable et se caractérise principalement par un retard du développement, un déficit intellectuel, une petite taille, une dysmorphie craniofaciale (incluant une microcéphalie, une asymétrie faciale, un hypertélorisme, de longues fentes palpébrales, un épicanthus, des oreilles implantées basses ou en rotation anormale, un large nez avec un pont nasal plat, des narines antéversées, un long philtrum, une lèvre supérieure fine, un palais ogival, une micrognathie) et des anomalies squelettiques (comme un cubitus valgus, des pieds bots varus équins). Les patients peuvent aussi présenter des malformations cardiaques (comme une communication interventriculaire, une sténose de la valve mitrale), une fossette sacrée, une syndactylie des tissus mous, des nævus pigmentés et des convulsions."},"de":{"name":"Chromosom X, kleine Ringe","definition":"Eine seltene Chromosom-X-Strukturanomalie mit sehr variablem Phänotyp, der hauptsächlich durch Entwicklungsverzögerung, Intelligenzminderung, Kleinwuchs, kraniofaziale Dysmorphien (inkl. Mikrozephalie, Gesichtsasymmetrie, Hypertelorismus, lange Lidspalten, Epikanthus, tief angesetzte oder malrotierte Ohren, breite Nase mit flachem Nasenrücken, antevertierte Nasenlöcher, langes Philtrum, dünne Oberlippe, hochgewölbter Gaumen, Mikrognathie) und Skelettanomalien (z. B. Cubitus valgus, Talipes equinovarus) gekennzeichnet ist. Die Patienten können darüber hinaus auch Herzfehlbildungen (z. B. Ventrikelseptumdefekte, Mitralklappenstenose), Sakralgrübchen, Weichteilsyndaktylie, pigmentierte Nävi und Krampfanfälle aufweisen."},"es":{"name":"Síndrome de pequeño cromosoma X en anillo","definition":"Es una anomalía estructural del cromosoma X poco frecuente, con fenotipo muy variable, caracterizada fundamentalmente por retraso en el desarrollo, discapacidad intelectual, talla baja, dismorfia craneofacial (incluyendo microcefalia, asimetría facial, hipertelorismo, fisuras palpebrales largas, epicanto, orejas malrotadas o de baja implantación, nariz ancha con puente nasal plano, narinas antevertidas, filtrum largo, labio superior delgado, paladar ojival, micrognatia) y anomalías esqueléticas (p. ej., cúbito valgo, pie zambo). Los afectados también pueden presentar malformaciones cardíacas (p. ej., defectos del tabique ventricular, estenosis de la válvula mitral), hoyuelo sacro, sindactilia de tejidos blandos, nevos pigmentados y convulsiones."},"it":{"name":"Sindrome cromosoma X a piccoli anelli","definition":"Il cromosoma X a piccoli anelli è un'anomalia strutturale rara, che si associa ad un quadro clinico molto variabile, per lo più caratterizzato da ritardo dello sviluppo, disabilità intellettiva, bassa statura, dismorfismi craniofacciali (microcefalia, asimmetria del viso, ipertelorismo, rime palpebrali lunghe, epicanto, orecchie a basso impianto o malrotate, naso ampio con sella piatta, narici anteverse, filtro lungo, labbro superiore sottile, palato ogivale, micrognazia) ed anomalie scheletriche (cubito valgo, piedi equino-vari). I pazienti possono inoltre presentare cardiopatie (difetti del setto interventricolare, stenosi della valvola mitrale), fossetta sacrale, sindattilia dei tessuti molli, nevi pigmentati e crisi epilettiche."},"nl":{"name":"Syndroom van kleine X-ringchromosomen","definition":"X-chromosoom, kleine ringen is een zeldzame structurele anomalie van chromosoom X, met een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door ontwikkelingsachterstand, intellectuele achterstand, kleine gestalte, craniofaciale dysmorfie (inclusief microcefalie, faciale asymmetrie, hypertelorisme, lange ooglidspleten, epicanthus, laagstaande oren of malrotatie van de oren, brede neus met een platte neusbrug, anteversie van de neusgaten, lang filtrum, dunne bovenlip, hoog gebogen verhemelte, micrognathie) en skeletanomalieën (e.g. cubitus valgus, talipes equinovarus). Patiënten vertonen mogelijk ook hartmalformaties (e.g. ventrikelseptumdefecten, mitralisklepstenose), sacrale dimpel, syndactylie van zacht weefsel, gepigmenteerde naevi, en insulten."},"pt":{"name":"Cromossoma X em anel, pequeno"},"pl":{"name":"Zespół małych pierścieniowych chromosomów X"},"cs":{"name":"Malé ring chromozomy X","synonyms":["Malé kruhové chromozomy X"]},"uk":{"name":"Маленька кільцева хромосома X","definition":"X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures."},"zh":{"name":"小环形X染色体","definition":"小型环状X染色体是一种罕见的X染色体结构异常，表型高度可变，主要表现为发育迟缓、智力障碍、身材矮小、颅颌面畸形（包括小头畸形、面部不对称、眼距过宽、眼睑裂长、内眦赘皮、低位或畸形耳、宽鼻、鼻梁扁平、鼻孔前倾，人中长，上唇薄，上颚高弓，小颌畸形，骨骼畸形（如肘外翻、马蹄内翻足）；患者还可能出现心脏畸形（如室间隔缺损、二尖瓣狭窄）、骶骨凹陷、软组织并指畸形、色素痣和癫痫发作。"},"tr":{"name":"Küçük halka X Kromozomu"}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1396753341"},{"source":"MONDO","code":"0019926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98159,"name":"Chromosome X structural anomaly syndrome","classifications":[147,156]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-23","source":"1415351[PMID]_10982188[PMID]_7665167[PMID]_8326492[PMID]_8079992[PMID]_8265665[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009816","label":"Lower limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0400000","label":"Tall chin","frequency":"Occasional (29-5%)","criteria":null}]}}