{"orpha":3010,"name":"Qazi-Markouizos syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Dysharmonic skeletal maturation-muscular fiber disproportion syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3010/","orphanet_url":"https://www.orpha.net/en/disease/detail/3010","names":{"fr":{"name":"Syndrome de Qazi-Markouizos","synonyms":["Syndrome de maturation osseuse dysharmonieuse-fibres musculaires anormales"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une hypotonie centrale congénitale marquée et non progressive, un retard psychomoteur et une déficience intellectuelle sévères, une constipation chronique, un abdomen distendu, des dermatoglyphes anormaux, une maturation osseuse disharmonieuse et retardée, et une prépondérance de fibres musculaires de type 2 de plus grande taille. Les autres signes sont un palais ogival, une racine nasale proéminente, un philtrum long et une bouche entrouverte avec hypersalivation. Une cryptorchidie, un hypertélorisme et des doigts effilés sont également observés de manière inconstante. Des convulsions et/ou une électroencéphalographie anormale peuvent aussi être associées. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Qazi-Markouizos-Syndrom","synonyms":["Dysharmonische Skelettreifung-Muskelfaser-Disproportion-Syndrom"],"definition":"Eine seltene, genetisch bedingte, syndromale Störung der intellektuellen Entwicklung, die durch eine nicht-progrediente zentrale Muskelhypotonie, schwere psychomotorische Verzögerung und Intelligenzminderung, chronische Verstopfung, ein aufgeblähtes Abdomen, abnorme Dermatoglyphen, verzögerte und dysharmonische Skelettreifung und Muskelfaser-Disproportion gekennzeichnet ist. Weitere Merkmale sind ein schmaler und hochgewölbter Gaumen, eine prominente Nasenwurzel, ein langes Philtrum sowie ein unterschiedlich ausgeprägter Kryptorchismus, Hypertelorismus und spitze Finger. Krampfanfälle und/oder ein abnormales Elektroenzephalogramm können ebenfalls assoziert sein. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Qazi-Markouizos","synonyms":["Maduración ósea disharmónica-fibras musculares anómalas"],"definition":"Es una discapacidad intelectual sindrómica, de origen genético y poco frecuente caracterizada por las siguientes manifestaciones de carácter congénito y no-progresivo: marcada hipotonía central, retraso psicomotor y discapacidad intelectual graves, estreñimiento crónico, abdomen distendido, dermatoglífos anómalos, maduración esquelética tardía y disarmónica y predominio de fibras musculares tipo II de mayor tamaño. Otros hallazgos adicionales incluyen paladar ojival, raíz nasal prominente, filtrum largo y boca entreabierta con babeo, así como presencia variable de criptorquidia, hipertelorismo y dedos de las manos cónicos. También puede asociar crisis epilépticas y/o anomalías en el electroencefalograma. No ha habido más casos descritos en la literatura desde 1994."},"it":{"name":"Sindrome di Qazi-Markouizos","synonyms":["Mutazione ossea disarmonica - anomalie delle fibre muscolari"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ipotonia centrale marcata congenita non progressiva, grave ritardo psicomotorio, disabilità intellettiva, costipazione cronica, distensione dell'addome, anomalie dei dermatoglifi, maturazione scheletrica ritardata e disarmonica, e predominanza delle fibre muscolari di tipo 2 di dimensioni più grandi. Altri segni clinici sono il palato stretto e ogivale, la radice del naso prominente, il filtro lungo e la bocca aperta con ipersalivazione. Può associarsi a criptorchidismo, ipertelorismo, dita affusolate, crisi epilettiche e/o anomalie dell'elettroencefalogramma. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Syndroom van Qazi-Markouizos","synonyms":["Disharmonische skeletale maturatie - spiervezel-disproportie-syndroom"],"definition":"Een zeldzame, genetische, syndromale, intellectuele beperking, gekarakteriseerd door niet-progressieve, congenitale, aanzienlijke, centrale hypotonie, ernstige psychomotorische en intellectuele achterstand, chronische constipatie, abdominale distensie, abnormale dermatoglyfen, vertraagde en disharmonische skeletmaturatie, en overwicht van omvangrijkere type 2 spiervezels. Bijkomende kenmerken zijn onder meer smal en hoog gebogen verhemelte, prominente neuswortel, lang filtrum, en open mond met kwijlen, alsook variabele aanwezigheid van cryptorchisme, hypertelorisme, en spitse vingers. Insulten en/of een abnormaal elektro-encefalogram kunnen ook geassocieerd zijn. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Qazi-Markouizos","synonyms":["Síndrome de maturação esquelética desarmónica-desproporção das fibras musculares"]},"pl":{"name":"Zespół Qazi i Markouizosa","synonyms":["Nieharmonijne dojrzewanie szkieletu - dysproporcja włókien mięśniowych"]},"cs":{"name":"Qaziho-Markouizosův syndrom","synonyms":["Syndrom zahrnující dysharmonickou maturaci skeletu a disproporci svalových vláken","Qazi-Markouizosův syndrom"]},"uk":{"name":"Синдром Казі-Маркуізоса","synonyms":["Синдром дисгармонійного дозрівання скелета та диспропорції мязових волокон"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994."},"zh":{"name":"Qazi-Markouizos综合征","synonyms":["骨骼发育不协调-肌纤维不平衡综合征"]},"tr":{"name":"Qazi-Markouizos sendromu","synonyms":["Disharmonik iskelet olgunlaşma-kas lifi orantısızlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"600096","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010816","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931142","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8064821[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8064821[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-13","source":"8064821[PMID]","terms":[{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001216","label":"Delayed ossification of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200000","label":"Dysharmonic bone age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","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:0000685","label":"Hypoplasia of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null}]}}