{"orpha":276630,"name":"Symptomatic form of Coffin-Lowry syndrome in female carriers","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276630/","orphanet_url":"https://www.orpha.net/en/disease/detail/276630","names":{"fr":{"name":"Forme symptomatique du syndrome de Coffin-Lowry de la femme porteuse","definition":"Déficience intellectuelle syndromique rare liée à l'X qui, chez les femmes porteuses symptomatiques, se caractérise par un phénotype très variable comprenant une dysmorphie faciale (front proéminent, hypertélorisme, fentes palpébrales inclinées vers le bas, plis épicanthaux, lèvres épaisses avec un vermillon éversé au niveau de la lèvre inférieure, septum nasal et narines épais), des mains courtes et des doigts aux extrémités fuselées, une petite taille et des anomalies squelettiques (cyphoscoliose progressive). On observe une déficience intellectuelle légère à modérée, mais la capacité intellectuelle peut aussi être normale. Un taux élevé de troubles psychiatriques a également été rapporté."},"de":{"name":"Symptomale Form des Coffin-Lowry-Syndroms bei weiblichen Anlageträgerinnen","definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die bei symptomatischen weiblichen Überträgerinnen durch einen sehr variablen Phänotyp mit Gesichtsdysmorphien (prominente Stirn, Hypertelorismus, nach unten geneigte Lidfalten, Epikanthusfalten, dicke Lippen mit evertiertem Unterzinnober, dicke Nasenflügel und Septum), kurzen Händen mit spitzen Fingern, Kleinwuchs und Skelettbefunden (progressive Kyphoskoliose) gekennzeichnet ist. Die Intelligenzminderung ist leicht bis mittelschwer, der Intellekt kann aber auch normal sein. Es wurde auch über eine hohe Rate an psychiatrischen Störungen berichtet."},"es":{"name":"Forma sintomática del síndrome de Coffin-Lowry en mujeres portadoras","definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X que en mujeres portadoras sintomáticas está caracterizada por un fenotipo altamente variable, incluyendo dismorfia facial (frente prominente, hipertelorismo, fisuras palpebrales descendentes, pliegues epicánticos, labios gruesos con bermellón inferior evertido, alas y tabique nasal gruesos), manos cortas con dedos ahusados, talla baja y hallazgos esqueléticos (cifoescoliosis progresiva). La discapacidad intelectual varía leve a moderada, aunque el intelecto también puede ser normal. También se ha descrito una elevada tasa de trastornos psiquiátricos."},"it":{"name":"Forma sintomatica della sindrome di Coffin-Lowry nelle femmine portatrici","definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X che, nelle femmine portatrici sintomatiche, è caratterizzata da un fenotipo molto variabile che comprende dismorfismi facciali (fronte prominente, ipertelorismo, rime palpebrali oblique verso il basso, epicanto, labbra spesse con porzione mucosa del labbro inferiore anteversa, ali del naso e setto spessi), mani corte con dita affusolate, bassa statura e sintomi scheletrici (cifoscoliosi progressiva). Le pazienti possono presentare disabilità intellettiva lieve-moderata oppure intelligenza normale. Il tasso di patologie psichiatriche è elevato."},"nl":{"name":"Symptomatische vorm van Coffin-Lowrysyndroom bij vrouwelijke dragers","definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, bij symptomatische vrouwelijke dragers gekarakteriseerd door een zeer variabel fenotype met onder meer faciale dysmorfie (prominent voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, epicanthusplooien, dikke lippen met eversie van onderste vermiljoen, dikke neusvleugels, en septum), korte handen met spits toelopende vingers, kleine gestalte en bevindingen betreffende het skelet (progressieve kyfoscoliose). Intellectuele achterstand is mild tot matig, maar de intelligentie kan ook normaal zijn. Er werd ook een hoog percentage psychiatrische aandoeningen gerapporteerd."},"pt":{"name":"Síndrome de Coffin-Lowry em mulheres portadoras, forma sintomática"},"pl":{"name":"Objawowa postać zespołu Coffina i Lowry'ego u kobiet nosicielek"},"cs":{"name":"Symptomatická forma Coffinova-Lowryho syndromu u žen přenašeček","synonyms":["Symptomatická forma Coffin-Lowryho syndromu u žen přenašeček"]},"uk":{"name":"Симптоматична форма синдрому Коффіна-Лоурі у жінок-носіїв","definition":"A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported."},"zh":{"name":"女性Coffin-Lowry综合征携带者症候"},"tr":{"name":"Kadın taşıyıcılarda Coffin-Lowry sendromunun semptomatik formu"}},"xrefs":[{"source":"OMIM","code":"300844","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017193","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"RPS6KA3","name":"ribosomal protein S6 kinase A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301520[PMID]","hgnc":"10432","ensembl":"ENSG00000177189","omim":"300075","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","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:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}