{"orpha":300179,"name":"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness","Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss","FKBP14-related EDS","FKBP22-deficient EDS","Kyphoscoliotic EDS due to FKBP22 deficiency","kEDS-FKBP14"],"definition":"A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300179/","orphanet_url":"https://www.orpha.net/en/disease/detail/300179","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos type cyphoscoliotique par déficit en FKBP22","synonyms":["SED cyphoscoliotique par déficit en FKBP22","SED type cyphoscoliotique lié à FKBP14","SEDk-FKBP14","Syndrome d'Ehlers Danlos avec cyphoscoliose, myopathie et surdité"],"definition":"Sous-type rare du syndrome cyphoscoliotique d'Ehlers-Danlos caractérisé par une hypotonie musculaire congénitale, une cyphoscoliose congénitale ou précoce (progressive ou non), et une hypermobilité articulaire généralisée avec dislocations/subluxations (en particulier des épaules, des hanches et des genoux). D'autres caractéristiques communes sont : l'hyperextensibilité de la peau, la tendance aux ecchymoses, la rupture/l'anévrisme d'une artère de taille moyenne, l'ostéopénie/ostéoporose, les sclérotiques bleutées, la hernie ombilicale ou inguinale, la déformation de la poitrine, un habitus marfanoïde, le talipes equinovarus et les erreurs de réfraction. Les manifestations spécifiques à un sous-type sont les déficiences auditives congénitales (neurosensorielles, de transmission ou mixtes), l'hyperkératose folliculaire, l'atrophie musculaire et les diverticules de la vessie. Des tests moléculaires sont nécessaires pour confirmer le diagnostic."},"de":{"name":"Kyphoskoliotisches Ehlers-Danlos-Syndrom durch FKBP22-Defizienz","synonyms":["EDS mit progressiver Kyphoskoliose, Myopathie und Hörverlust","EDS, kyphoskoliotischer Typ mit Hörverlust","FKBP14-assoziiertes EDS","FKBP22-defizienzes EDS","Kyphoskoliotisches EDS durch FKBP22-Mangel","kEDS-FKBP14"],"definition":"Ein seltener Subtyp des kyphoskoliotischen Ehlers-Danlos-Syndroms, gekennzeichnet durch angeborene Muskelhypotonie, angeborene oder früh einsetzende Kyphoskoliose (progressiv oder nicht-progredient) und generalisierte Gelenkhypermobilität mit Dislokationen/Subluxationen (insbesondere der Schultern, Hüften und Knie). Weitere häufige Merkmale sind Überdehnbarkeit der Haut, leichte Blutergüsse, Ruptur/Aneurysma einer mittelgroßen Arterie, Osteopenie/Osteoporose, blaue Skleren, Nabel- oder Leistenbruch, Brustdeformität, marfanoider Habitus, Klumpfüße und Fehlsichtigkeit. Zu den subtypspezifischen Manifestationen gehören kongenitale Schwerhörigkeit (sensorineural, konduktiv oder gemischt), follikuläre Hyperkeratose, Muskelatrophie und Blasendivertikel. Molekulargenetische Untersuchungen sichern die Diagnose."},"es":{"name":"Síndrome de Ehlers-Danlos cifoescoliótico por deficiencia de FKBP22","synonyms":["SED asociado a FKBP14","SED cifoescoliótico por deficiencia de FKBP22","SED deficiente en FKBP22","Síndrome de Ehlers-Danlos con cifoescoliosis, miopatía e hipoacusia","Síndrome de Ehlers-Danlos con cifoescoliosis, miopatía y sordera"],"definition":"Es un subtipo poco frecuente del síndrome de Ehlers-Danlos cifoscoliótico caracterizado por hipotonía muscular y cifoscoliosis congénitas o de inicio temprano (progresiva o no progresiva) e hipermovilidad articular generalizada con luxaciones/subluxaciones (en particular de los hombros, las caderas y las rodillas). Otros hallazgos adicionales frecuentes son hiperextensibilidad cutánea, propensión a hematomas en la piel, ruptura/aneurisma de arterias medianas, osteopenia/osteoporosis, escleróticas azules, hernia umbilical o inguinal, deformidades torácicas, hábito marfanoide, pie zambo y defectos de refracción. Las manifestaciones específicas del subtipo incluyen deficiencia auditiva congénita (neurosensorial, de conducción o mixta), hiperqueratosis folicular, atrofia muscular y divertículos vesicales. Las pruebas moleculares son necesarias para la confirmación diagnóstica."},"it":{"name":"Sindrome di Ehlers-Danlos cifoscoliotica da defcit di FKBP22","synonyms":["EDS con cifoscoliosi progressiva, miopatia e perdita dell'udito","EDS con cifoscoliosi progressiva, miopatia e sordità","EDS, tipo cifoscoliotico e sordità","Sindrome di Ehlers-Danlos con cifoscoliosi progressiva, miopatia e perdita dell'udito","Sindrome di Ehlers-Danlos con cifoscoliosi progressiva, miopatia e sordità","Sindrome di Ehlers-Danlos, tipo cifoscoliotico e perdita dell'udito"],"definition":"Si tratta di un sottotipo raro della sindrome di Ehlers-Danlos cifoscoliotica, caratterizzato da ipotonia muscolare congenita, cifoscoliosi congenita o ad esordio precoce (progressiva o non progressiva), e ipermobilità articolare generalizzata associata a dislocazioni/sublussazioni (in particolare della spalla, dell'anca e del ginocchio). Altri segni clinici comuni sono l'iperestensibilità della cute, la tendenza alle ecchimosi, la rottura/gli aneurismi delle arterie di medie dimensioni, l'osteopenia/osteoporosi, le sclere blu, l'ernia ombelicale o inguinale, le deformità del torace, l'habitus marfanoide, i piedi equino-vari e gli errori refrattivi. I segni clinici caratteristici di questo sottotipo comprendono la sordità congenita (neurosensoriale, di conduzione o mista), l'ipercheratosi follicolare, l'atrofia muscolare e i diverticoli vescicali. Le analisi molecolari confermano la diagnosi."},"nl":{"name":"Kyfoscoliotisch syndroom van Ehlers-Danlos door FKBP22-deficiëntie","synonyms":["FKBP14-gerelateerd EDS","FKBP22-deficiënt EDS","Kyfoscoliotisch EDS door FKBP22-deficiëntie","Syndroom van Ehlers-Danlos met kyfoscoliose, myopathie en gehoorverlies","kEDS-FKBP14"],"definition":"Een zeldzaam subtype van kyfoscoliotisch syndroom van Ehlers-Danlos, gekarakteriseerd door congenitale spierhypotonie, congenitale of vroeg aanvangende kyfoscoliose (progressief of niet-progressief), en gegeneraliseerde gewrichtshypermobiliteit met dislocaties/subluxaties (vooral van schouder, heup, en knie). Bijkomende gangbare bevindingen zijn hyperelastische huid, gevoeligheid voor kneuzing van huid, ruptuur/aneurysma van een middelgrote arterie, osteopenie/osteoporose, blauwe sclerae, navel- of liesbreuk, misvorming van borstkas, marfanoïde habitus, talipes equinovarus, en refractiefouten. Manifestaties specifiek voor dit subtype zijn onder meer congenitale slechthorendheid (sensorineuraal, conductief, of gemengd), folliculaire hyperkeratose, spieratrofie, en blaasdivertikels. Moleculair testen is vereist om de diagnose te bevestigen."},"pt":{"name":"Síndrome Ehlers-Danlos cifoescoliótico por deficiência FKBP22","synonyms":["EDS FKBP14-relacionado","EDS cifoescoliótico por deficiência FKBP22","EDS com deficiência FKBP22","EDS-FKBP14 cifoescoliótico","Síndrome Ehlers-Danlos com cifoescoliose, miopatia e surdez"]},"pl":{"name":"Zespół Ehlersa i Danlosa, typ kifoskoliotyczny i głuchota","synonyms":["EDS z postępującą kifoskoliozą, miopatią i głuchotą","EDS z postępującą kifoskoliozą, miopatią i utratą słuchu","EDS, typ kifoskoliotyczny i utrata słuchu","Zespół Ehlersa i Danlosa z postępującą kifoskoliozą, miopatią i głuchotą","Zespół Ehlersa i Danlosa z postępującą kifoskoliozą, miopatią i utratą słuchu","Zespół Ehlersa i Danlosa, typ kifoskoliotyczny i utrata słuchu"]},"cs":{"name":"Ehlers-Danlosův syndrom, forma kyfoskoliotická s hluchotou","synonyms":["EDS s progresivní kyfoskoliózou, myopatií a hluchotou","EDS s progresivní kyfoskoliózou, myopatií a ztátou sluchu","EDS, kyfoskoliotická forma se ztrátou sluchu","Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a hluchotou","Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a ztrátou sluchu","Ehlers-Danlosův syndrom, kyfoskoliotická forma se ztrátou sluchu"]},"uk":{"name":"Кіфосколіотичний синдром Елерса-Данлоса, зумовлений дефіцитом FKBP22","synonyms":["Синдром Елерса-Данлоса з кіфосколіозом, міопатією та глухотою","Синдром Елерса-Данлоса з кіфосколіозом, міопатією та втратою слуху","EDS, повязані з FKBP14","EDS з дефіцитом FKBP22","kEDS-FKBP14","Кіфосколіотичний EDS внаслідок дефіциту FKBP22"],"definition":"A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis."},"zh":{"name":"FKBP22缺陷所致脊柱后凸Ehler-Danlos综合征","synonyms":["FKBP22基因缺陷所致脊柱后凸型Ehler-Danlos综合征"],"definition":"脊柱后凸型皮肤弹性过度综合征的一种罕见亚型，其特征是先天性肌张力减退、先天性或早发性脊柱后凸畸形（进行性或非进行性），关节过度活动伴脱位/半脱位（尤其是肩、髋和膝关节）。其他常见特征包括皮肤伸展过度、皮肤易擦伤、中动脉破裂/动脉瘤、骨质减少/骨质疏松、蓝巩膜、脐疝或腹股沟疝、胸部畸形、马凡体型、马蹄内翻足和屈光不正。特殊亚型包括先天性听力损伤（感音神经性、传导性或混合性）、滤泡角化过度、肌肉萎缩和膀胱憩室。分子检测可明确诊断。"},"tr":{"name":"FKBP22 eksikliğine bağlı kifoskolyotik Ehlers-Danlos sendromu","synonyms":["Kifoskolyoz, miyopati ve sağırlık ile seyreden Ehlers-Danlos sendromu","Kifoskolyoz, miyopati ve işitme kaybı ile seyreden Ehlers-Danlos sendromu","kEDS-FKBP14","FKBP14-ilişkili EDS","FKBP22-yetersiz EDS","FKBP22 eksikliğine bağlı kifoskolyotik EDS"]}},"xrefs":[{"source":"OMIM","code":"614557","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":536545,"name":"Kyphoscoliotic Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"FKBP14","name":"FKBP prolyl isomerase 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22265013[PMID]","hgnc":"18625","ensembl":"ENSG00000106080","omim":"614505","loci":["7p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"27149304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27149304[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-10","source":"22265013[PMID]","terms":[{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025019","label":"Arterial rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very rare (<4-1%)","criteria":null}]}}