{"orpha":192,"name":"Coffin-Lowry syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CLS"],"definition":"A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and <i>pectus carinatum/excavatum</i>. Intellectual disability ranges from mild to severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-192/","orphanet_url":"https://www.orpha.net/en/disease/detail/192","names":{"fr":{"name":"Syndrome de Coffin-Lowry","synonyms":["CLS"],"definition":"Déficience intellectuelle rare, liée à l'X, caractérisée par un retard de développement global, un retard de croissance postnatale entraînant une petite taille, une dysmorphie faciale, des mains courtes avec des doigts aux extrémités effilées et des anomalies progressives du squelette, notamment une cyphoscoliose et un <i>pectus carinatum/excavatum</i>. La déficience intellectuelle va de légère à sévère."},"de":{"name":"Coffin-Lowry-Syndrom","synonyms":["CLS"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch eine globale Entwicklungsverzögerung, postnatale Wachstumsretardierung mit Kleinwuchs, Gesichtsdysmorphien, kurze Hände mit spitzen Fingern und progressive Skelettanomalien einschließlich Kyphoskoliose und Pectus carinatum/excavatum gekennzeichnet ist. Die Intelligenzminderung reicht von leicht bis schwer."},"es":{"name":"Síndrome de Coffin-Lowry","synonyms":["CLS"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por retraso del desarrollo global, retraso del crecimiento postnatal que conduce a talla baja, dismorfia facial, manos cortas con dedos afilados distalmente y anomalías esqueléticas progresivas que incluyen cifoescoliosis y <i>pectus carinatum/excavatum</i>. La discapacidad intelectual varía de leve a grave."},"it":{"name":"Sindrome di Coffin-Lowry","synonyms":["CLS"],"definition":"La sindrome di Coffin-Lowry (CLS) è una disabilità intellettiva sindromica rara legata all'X, caratterizzata da ritardo dello sviluppo globale, ritardo della crescita postnatale che esita nella bassa statura, dismorfismi facciali, mani corte con dita affusolate e anomalie scheletriche progressive (cifoscoliosi e pectus carinatum/excavatum). La disabilità intellettiva varia da lieve a grave."},"nl":{"name":"Syndroom van Coffin-Lowry","synonyms":["CLS"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door algehele ontwikkelingsachterstand, postnatale groeiretardatie die leidt tot kleine gestalte, faciale dysmorfie, korte handen met taps toelopende vingers, en progressieve skeletanomalieën waaronder kyfoscoliose en pectus carinatum/excavatum. Intellectuele achterstand gaat van mild tot ernstig."},"pt":{"name":"Síndrome Coffin-Lowry","definition":"A síndrome de Coffin-Lowry (CLS) é uma doença neurológica genética rara caracterizada por atraso psicomotor e de crescimento, dismorfismo facial, anomalias dos dedos e alterações esqueléticas progressivas."},"pl":{"name":"Zespół Coffina i Lowry'ego","synonyms":["CLS"],"definition":"Rzadka syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X, charakteryzująca się globalnym opóźnieniem rozwoju, poporodowym opóźnieniem wzrastania prowadzącym do niskorosłości, dysmorfią twarzy, krótkimi dłońmi ze zwężającymi się palcami i postępującymi nieprawidłowościami kostnymi, w tym kifoskoliozą i klatką piersiową kurzą / lejkowatą. Niepełnosprawność intelektualna może mieć nasilenie łagodne do ciężkiego."},"cs":{"name":"Coffinův-Lowryho syndrom","synonyms":["CLS","Coffin-Lowryho syndrom"]},"uk":{"name":"Синдром Коффіна-Лоурі","synonyms":["CLS"],"definition":"A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and <i>pectus carinatum/excavatum</i>. Intellectual disability ranges from mild to severe."},"zh":{"name":"Coffin-Lowry综合征","synonyms":["CLS"]},"tr":{"name":"Tabut-Lowry sendromu","synonyms":["CLS"]}},"xrefs":[{"source":"OMIM","code":"303600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"380089065"},{"source":"MONDO","code":"0010561","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D038921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265252","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081806","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":["X-linked dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Not yet validated","source":"19888300[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-18","source":"20301520[PMID]_12362025[PMID]_19888300[PMID]","terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001500","label":"Broad finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011065","label":"Conical incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002868","label":"Narrow iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009193","label":"Pseudoepiphyses of the metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011580","label":"Short chordae tendineae of the mitral valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006692","label":"Short chordae tendineae of the tricuspid valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002711","label":"Exaggerated median tongue furrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}