{"orpha":1900,"name":"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cutis hyperelastica","EDS VIA","Ehlers-Danlos syndrome type 6A","Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency","Lysyl hydroxylase-deficient EDS","Ocular-scoliotic EDS","kEDS-PLOD1"],"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 skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low&#8208;set ears, epicanthal folds, down&#8208;slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1900/","orphanet_url":"https://www.orpha.net/en/disease/detail/1900","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos type cyphoscoliotique par déficit en lysyl hydroxylase 1","synonyms":["Cutis hyperelastica","EDS VIA","SED VIA","SED type cyphoscoliotique par déficit en lysyl hydroxylase 1","SED type oculo-scoliotique","SEDk-PLOD1","Syndrome d'Ehlers-Danlos type 6A"],"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. Parmi les manifestations spécifiques aux sous-types on distingue la fragilité de la peau, les cicatrices atrophiques, la fragilité/rupture sclérale/oculaire, la microcornée et la dysmorphie faciale (les oreilles implantées bas, des plis épicantaux, l'inclinaison vers le bas des fentes palpébrales et un palais haut). Des tests moléculaires sont nécessaires pour confirmer le diagnostic."},"de":{"name":"Kyphoskoliotisches Ehlers-Danlos-Syndrom durch Lysyl-Hydroxylase 1-Mangel","synonyms":["kEDS-PLOD1","EDS VIA","Ehlers-Danlos-Syndrom Typ 6A","Kyphoskoliotisches EDS durch Lysyl-Hydroxylase 1-Mangel","Lysyl-Hydroxylase-defizientes EDS","Okulär-skoliotisches EDS"],"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 der Haut, Ruptur/Aneurysma einer mittelgroßen Arterie, Osteopenie/Osteoporose, blaue Skleren, Nabel- oder Leistenbruch, Brustdeformität, marfanoider Habitus, Klumpfüße und Brechungsfehler. Zu den subtypenspezifischen Manifestationen gehören Hautbrüchigkeit, atrophische Narbenbildung, Sklerafragilität/Augenrisse, Mikrokorne und Gesichtsdysmorphologie (wie tief angesetzte Ohren, Epikanthusfalten, nach unten geneigte Lidspalten, hoher Gaumen). Die Diagnose wird durch molekulargenetische Tests bestätigt."},"es":{"name":"Síndrome de Ehlers-Danlos cifoescoliótico por deficiencia de lisil hidroxilasa 1","synonyms":["SED VIA","SED cifoescoliótico asociado a PLOD1","SED cifoescoliótico por deficiencia de lisil hidroxilasa 1","SED deficiente en lisil hidroxilasa","SED ocular-escoliótico","Síndrome de Ehlers-Danlos tipo 6A"],"definition":"Es un subtipo poco frecuente del síndrome de Ehlers-Danlos cifoescoliótico caracterizado por hipotonía muscular congénita, cifoescoliosis congénita o de inicio temprano (progresiva o no progresiva) e hipermovilidad articular generalizada con luxaciones/subluxaciones (en particular de hombros, caderas y rodillas). Otras características adicionales comunes incluyen hiperextensibilidad de la piel, fácil formación de hematomas en la piel, ruptura/aneurisma de una arteria de tamaño medio, osteopenia/osteoporosis, esclerótica azul, hernia umbilical o inguinal, deformidad torácica, hábito marfanoide, pie zambo (talipes equinovaro) y errores de refracción. Las manifestaciones específicas del subtipo incluyen fragilidad de la piel, cicatrización atrófica, fragilidad/ruptura escleral/ocular, microcórnea y dismorfia facial (orejas de implantación baja, pliegues epicánticos, fisuras palpebrales inclinadas hacia abajo, paladar alto). Las pruebas moleculares son necesarias para la confirmación diagnóstica."},"it":{"name":"Sindrome di Ehlers-Danlos cifoscoliotica da deficit di lisil idrossilasi 1","synonyms":["EDS 6","Sindrome di Ehlers-Danlos, tipo 6"],"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 specifici di questo sottotipo comprendono la fragilità cutanea, le cicatrici atrofiche, la fragilità/rottura della sclera/dell'occhio, la microcornea e i dismorfismi facciali (orecchie a basso impianto, epicanto, rime palpebrali oblique verso il basso, palato ogivale). Le analisi molecolari confermano la diagnosi."},"nl":{"name":"Kyfoscoliotisch syndroom van Ehlers-Danlos door lysylhydroxylase 1-deficiëntie","synonyms":["Cutis hyperelastica","EDS VIA","Kyfoscoliotisch EDS door lysylhydroxylase 1-deficiëntie","Lysylhydroxylase-deficiënt EDS","Oculair-scoliotisch EDS","Syndroom van Ehlers-Danlos type 6A","kEDS-PLOD1"],"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 fragiliteit van huid, atrofische littekenvorming, sclerale/oculaire fragiliteit/ruptuur, microcornea, en faciale dysmorfie (zoals laagstaande oren, epicanthusplooien, nar beneden hellende ooglidspleten, hoog verhemelte). Moleculair testen is vereist om de diagnose te bevestigen."},"pt":{"name":"Síndrome Ehlers-Danlos tipo 6 cifoscoliótico por deficiência de lisil hidroxilase","synonyms":["EDS VI","Síndrome Ehlers-Danlos tipo 6","Síndrome Ehlers-Danlos tipo cifoscoliótico"]},"pl":{"name":"Zespół Ehlersa i Danlosa, typ kifoskoliotyczny","synonyms":["EDS VIA","EDS, oczno-skoliotyczny","EDS, typ kifoskoliotyczny","Zespół Ehlersa i Danlosa typu 6A","Zespół Ehlersa i Danlosa, typ oczno-skoliotyczny"]},"cs":{"name":"Kyfoskoliotický Ehlersův-Danlosův syndrom způsobený deficiencí lysyl hydroxylázy 1","synonyms":["EDS VIA","EDS, okuloskoliotický typ","EDS, kyfoskoliotický typ způsobený deficitem lysyl hydroxylázy 1","Ehlersův-Danlosův syndrom, typ 6A","Ehlersův-Danlosův syndrom, okuloskoliotický typ","Kyfoskoliotický Ehlers-Danlosův syndrom způsobený deficiencí lysyl hydroxylázy 1","Ehlers-Danlosův syndrom, typ 6A","Ehlers-Danlosův syndrom, okuloskoliotický typ"]},"uk":{"name":"Кіфосколіотичний синдром Елерса-Данлоса внаслідок дефіциту лізилгідроксилази 1","synonyms":["Гіпереластична шкіра (Cutis hyperelastica)","EDS VIA","Синдром Елерса-Данлоса, тип 6А","kEDS-PLOD1","Кіфосколіотичний EDS внаслідок дефіциту лізилгідроксилази 1","EDS внаслідок дефіциту лізилгідроксилази","Окулярно-сколіотичний EDS"],"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 skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low&#8208;set ears, epicanthal folds, down&#8208;slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis."},"zh":{"name":"赖氨酰羟化酶1缺乏所致脊柱后侧凸型Ehlers-Danlos syndrome","synonyms":["赖氨酸羟化酶缺乏EDS"]},"tr":{"name":"Lizil hidroksilaz 1 eksikliğine bağlı kifoskolyotik Ehlers-Danlos sendromu","synonyms":["Lizil hidroksilaz 1 eksikliğine bağlı kifoskolyotik EDS","EDS VIA","kEDS-PLOD1","Kutis hiperelastika","Oküler-skolyotik EDS","Ehlers-Danlos sendromu tip 6A","Lizil hidroksilaz eksikliği olan EDS"]}},"xrefs":[{"source":"OMIM","code":"225400","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":"index","validated":true,"icd11_uri":"241506087"},{"source":"MONDO","code":"0016002","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2691,"name":"Nevo syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":536545,"name":"Kyphoscoliotic Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PLOD1","name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15979919[PMID]_20301635[PMID]","hgnc":"9081","ensembl":"ENSG00000083444","omim":"153454","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"21699693[PMID]_15666309[PMID]"},{"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":"2020-11-02","source":"25266621[PMID]_19760654[PMID]_20301635[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005659","label":"Thoracic kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032153","label":"Joint subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025019","label":"Arterial rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008453","label":"Congenital kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020152","label":"Distal joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025513","label":"Scleral rupture","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003835","label":"Shoulder subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031158","label":"Widened atrophic scar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002624","label":"Abnormal venous morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045052","label":"Abnormality of the brachial nerve plexus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031629","label":"Impaired tandem gait","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031189","label":"Wrist drop","frequency":"Very rare (<4-1%)","criteria":null}]}}