{"orpha":157965,"name":"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SCD-EDS","SLC39A13-related spEDS","SLC39A13-related spondylodysplastic EDS","Spondylocheirodysplastic Ehlers-Danlos syndrome","spEDS-SLC39A13"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the <i>SLC39A13</i> gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157965/","orphanet_url":"https://www.orpha.net/en/disease/detail/157965","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos spondylodysplasique lié à SLC39A13","synonyms":["SED spondylodysplasique lié à SLC39A13","SED type spondylo-cheiro-dysplasique","SEDsp lié à SLC39A13","spEDS-SLC39A13"],"definition":"Forme de syndrome d'Ehlers-Danlos spondylodysplasique due à des variants du gène <i>SLC39A13</i>, caractérisée par une peau fine et légèrement ridée sur les mains et les pieds, une hypermobilité des articulations distales, une dysmorphie faciale typique (fentes palpébrales inclinées vers le bas, hypertélorisme léger, yeux protubérants avec peu de graisse périorbitaire, sclérotiques bleues, microdontie ou oligodontie) et une hypotonie musculaire, et associée à une petite taille à début infantile, des troubles oculaires (myopie et kératocône) et, plus rarement, des complications vasculaires. Parmi les anomalies légères visibles à la radiographie, la platyspondylie contribue à l'établissement du diagnostic."},"de":{"name":"SLC39A13-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom","synonyms":["SLC39A13-abhängiges spEDS","SLC39A13-assoziiertes spondylodysplastisches EDS","spEDS-SLC39A13","Ehlers-Danlos-Syndrom, spondylo-cheiro dysplastische Form","SCD-EDS"],"definition":"Ein seltener Subtyp des spondylodysplastischen Ehlers-Danlos-Syndroms (EDS), der auf Mutationen im <i>SLC39A13</i>-Gen zurückzuführen ist. Kennzeichnend ist das Vorhandensein von dünner und fein faltiger Haut an Händen und Füßen, hypermobilen distalen Gelenken, charakteristischen Gesichtszügen (schräg abwärts verlaufende Lidspalten, leichter Hypertelorismus, hervortretende Augen mit wenig periorbitalem Fett, bläuliche Skleren, Mikrodontie oder Oligodontie) und muskulärer Hypotonie in Verbindung mit signifikanter Kleinwüchsigkeit im Kindesalter, Augenbefunden (Myopie und Keratokonus) und (seltener) vaskulären Komplikationen. Es wurden leichte radiologische Veränderungen beobachtet, von denen die Platyspondylie ein nützliches diagnostisches Merkmal ist."},"es":{"name":"Síndrome de Ehlers-Danlos espondilodisplásico asociado a SLC391A13","synonyms":["SED espondilodisplásico asociado a SLC391A13","Síndrome de Ehlers-Danlos displásico espondiloqueiral"],"definition":"Es una forma del síndrome de Ehlers-Danlos espondilodisplásico (SED) causado por variantes del gen <i>SLC39A13</i> y caracterizado por piel fina y ligeramente arrugada en las manos y los pies, hipermovilidad de las articulaciones distales, rasgos faciales característicos (fisuras palpebrales descendentes, leve hipertelorismo, ojos prominentes con grasa periorbitaria escasa, escleróticas azules, micro- u oligodoncia), hipotonía muscular asociada a talla baja significativa de inicio en la infancia, alteraciones oculares (miopía y queratocono) y, ocasionalmente, complicaciones vasculares. También se han descrito hallazgos radiológicos leves, siendo la platispondilia una característica de utilidad diagnóstica."},"it":{"name":"Sindrome di Ehlers-Danlos spondilodisplastica correlata a SLC39A13","synonyms":["EDS, tipo spondilo-cheiro-displasico"],"definition":"Si tratta di una forma della sindrome di Ehlers-Danlos (EDS) spondilodisplastica, causata dalle mutazioni del gene <i>SLC39A13</i>, caratterizzata da assottigliamento della cute delle mani e dei piedi, con plicatura fine, ipermobilità delle articolazioni distali, dismorfismi facciali (rime palpebrali oblique verso il basso, ipertelorismo lieve, occhi prominenti con scarso grasso periorbitale, sclere blu, microdontia o oligodontia), ipotonia muscolare, statura notevolmente bassa ad esordio infantile, anomalie oculari (miopia e cheratocono) e, più raramente, complicanze vascolari. I pazienti presentano anomalie radiografiche lievi, compresa la platispondilia, che orienta la diagnosi."},"nl":{"name":"SLC39A13-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos","synonyms":["SCD-EDS","SLC39A13-gerelateerd spEDS","SLC39A13-gerelateerd spondylodysplastisch EDS","Spondylocheirodysplastisch syndroom van Ehlers-Danlos","spEDS-SLC39A13"],"definition":"Een vorm van spondylodysplastisch syndroom van Ehlers-Danlos (EDS) door varianten in het gen <i>SLC39A13</i>, gekarakteriseerd door de aanwezigheid van dunne en fijn gerimpelde huid op handen en voeten, hypermobiele distale gewrichten, typische gelaatskenmerken (schuin naar beneden hellende ooglidspleten, mild hypertelorisme, prominente ogen en weinig periorbitaal vet, blauwachtige sclerae, en microdontie of oligodontie), spierhypotonie, geassocieerd met significant kleine gestalte met aanvang in de kindertijd, oculaire bevindingen (myopie en keratoconus), en, in zeldzamere gevallen, vasculaire complicaties. Er werden milde radiografische veranderingen geobserveerd, waarvan platyspondylie een nuttig diagnostisch kenmerk is."},"pt":{"name":"Síndrome Ehlers-Danlos espondilodisplásico SLC39A13-relacionado","synonyms":["Síndrome Ehlers-Danlos forma displásica espondiloqueirótica"]},"pl":{"name":"Zespół Ehlersa i Danlosa typu kręgowo-dłoniowo-dysplastycznego","synonyms":["EDS, typ kręgowo-dłoniowo-dysplastyczny"],"definition":"*Zespół Ehlersa i Danlosa typu kręgowo-dłoniowo-dysplastycznego to rzadki podtyp zespołu Ehlersa i Danlosa (EDS) z dysplazją kręgosłupową, który charakteryzuje się obecnością klasycznych skórnych cech EDS (takich jak: nadmiernie rozciągliwa, miękka, ciastowata, cienka, przezroczysta skóra z atroficznymi bliznami) i niskim wzrostem (postępuje w dzieciństwie), wypukłymi oczami z niebieskawymi twardówkami, nadmiernie pomarszczonymi dłońmi, hipotrofią mięśni kłębu, zwężającymi się palcami i nadmierną ruchomością dystalnych stawów z tendencją do przykurczów - z powodu mutacji w genie SLC39A13. W badaniu radiologicznym stwierdza się charakterystyczne objawy: spłaszczone kręgi, osteopenię (głównie w kręgach), poszerzone przynasady (w stawach łokciowych, nadgarstkach, w stawach międzypaliczkowych), płaskie nasady (szyjka kości udowej i krótkich kości rurkowatych) oraz małe, szerokie kości biodrowe."},"cs":{"name":"Ehlersův-Danlosův syndrom, spondylocheirodysplastický typ","synonyms":["EDS, spondylocheirodysplastický typ","Ehlers-Danlosův syndrom, spondylocheirodysplastický typ"]},"uk":{"name":"SLC39A13-асоційований спондилодиспластичний синдром Елерса-Данлоса","synonyms":["SCD-EDS","spEDS, повязаний з SLC39A13","SLC39A13-асоційована спондилодиспластична EDS","spEDS-SLC39A13","Спондилохейродиспластичний синдром Елерса-Данлоса"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the <i>SLC39A13</i> gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature."},"zh":{"name":"SLC39A13基因相关脊柱畸形 Ehlers-Danlos 综合征","synonyms":["脊柱畸形型Ehlers-Danlos 综合征"],"definition":"脊柱发育不良Ehler-Danlos综合征(EDS)的一种罕见亚型，其特征是典型的EDS皮肤特征(即过度伸展、柔软、薄半透明皮肤，伴萎缩性瘢痕)，身材矮小(儿童期进行性)、突眼伴蓝色巩膜、手掌皱纹过多、鱼际肌营养不良、手指逐渐变细以及远端关节高活动性且易挛缩。该病是由于SLC39A13基因图片所致。放射学特征表现包括扁平椎、骨质减少(主要在椎骨)、干骺端增宽(肘部、腕部、指间)、骨骺扁平(股骨颈和短管状骨)和髂骨小且宽。"},"tr":{"name":"SLC39A13-ilişkili spondilodisplastik Ehlers-Danlos sendromu","synonyms":["SCD-EDS","spEDS-SLC39A13","SLC39A13-ilişkili spEDS","SLC39A13-ilişkili spondilodisplastik EDS","Spondilokirodisplastik Ehlers-Danlos sendromu"]}},"xrefs":[{"source":"OMIM","code":"612350","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":"0012873","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":536471,"name":"Spondylodysplastic Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SLC39A13","name":"solute carrier family 39 member 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18513683[PMID]","hgnc":"20859","ensembl":"ENSG00000165915","omim":"608735","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"18513683[PMID]_18985159[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18513683[PMID]_18985159[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008848","label":"Moderately short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null}]}}