{"orpha":536471,"name":"Spondylodysplastic Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondylodysplastic EDS","spEDS"],"definition":"A rare connective tissue disorder for which three subtypes exist, either related to the gene <i>B4GALT7</i>, <i>B3GALT6</i> or <i>SLC39A13</i>, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-536471/","orphanet_url":"https://www.orpha.net/en/disease/detail/536471","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos spondylodysplasique","synonyms":["SED spondylodysplasique","SEDsp"],"definition":"Maladie rare du tissu conjonctif dont il existe trois sous-types liés au gène <i>B4GALT7</i>, au gène <i>B3GALT6</i>, ou au gène <i>SLC39A13</i>, et dont les caractéristiques cliniques se recoupent : petite taille (progressive dans l'enfance), une hyperlaxité des petites articulations, une hyperextensibilité cutanée, une peau lâche et pâteuse, en particulier sur les mains et les pieds, une hypotonie musculaire (allant d'une forme congénitale sévère à une forme légère d'apparition plus tardive), des anomalies squelettiques et, de façon plus variable, une ostéopénie, un retard du développement moteur et un varus de membres. Par ailleurs, dans chaque sous-type, on observe des caractéristiques variables, spécifiques aux gènes."},"de":{"name":"Ehlers-Danlos-Syndrom, spondylodysplastischer Typ","synonyms":["EDS, spondylodysplastisches","spEDS"],"definition":"Eine seltene Bindegewebsstörung, für die es drei Subtypen gibt, die mit den Genen <i>B4GALT7</i>, <i>B3GALT6</i> oder <i>SLC39A13</i> assoziiert sind. Die klinisch übereinstimmende Merkmale der Subtypen sind Kleinwuchs (in der Kindheit progressiv), Hypermobilität der kleinen Gelenke, Hyperextensibilität der Haut mit weicher, teigiger Haut, insbesondere an Händen und Füßen, Muskelhypotonie (von kongenital schwer bis leicht mit späterem Auftreten), Skelettanomalien und Osteopenie (in unterschiedlicher Ausprägung), verzögerte motorische Entwicklung und Beugung der Gliedmaßen. Bei jedem Subtyp werden zusätzlich genspezifische Merkmale beobachtet, die ebenfalls eine variable Ausprägung aufweisen."},"es":{"name":"Síndrome de Ehlers-Danlos espondilodisplásico","synonyms":["SED espondilodisplásico"],"definition":"Es un trastorno poco frecuente del tejido conectivo para el que existen tres subtipos, asociados a los genes <i>B4GALT7</i>, <i>B3GALT6</i> o <i>SLC39A13</i>. Las características clínicamente solapantes son talla baja (progresiva en la infancia), hipermovilidad de las pequeñas articulaciones, piel suave, aterciopelada e hiperextensible, especialmente en las manos y los pies, hipotonía muscular (de grave y congénita a leve de inicio tardío), anomalías esqueléticas y, de forma variable, osteopenia, retraso del desarrollo psicomotor e incurvación de las extremidades. Además, cada subtipo presenta características específicas de forma variable asociadas a cada gen en particular."},"it":{"name":"Sindrome di Ehlers-Danlos spondilodisplastica","definition":"Si tratta di una malattia rara del tessuto connettivo, di cui si distinguono tre sottotipi: la forma correlata al gene <i>B4GALT7</i>, al gene <i>B3GALT6</i> e al gene <i>SLC39A13</i>. I segni clinici comuni ai tre sottotipi sono la bassa statura (progressiva nell'infanzia), l'ipermobilità delle piccole articolazioni, la cute iperestensibile, soffice e flaccida, in particolare sulle mani e sui piedi, l'ipotonia muscolare (che può essere congenita e grave, fino a lieve e ad esordio tardivo), le anomalie scheletriche e, in maniera più variabile, l'osteopenia, il ritardo dello sviluppo motorio e l'incurvamento degli arti. In ogni sottotipo si osservano inoltre caratteristiche specifiche a seconda del gene interessato, con quadri clinici variabili."},"nl":{"name":"Spondylodysplastisch syndroom van Ehlers-Danlos","synonyms":["Spondylodysplastisch EDS","spEDS"],"definition":"Een zeldzame aandoening van bindweefsel waarvan drie subtypes bestaan, gerelateerd aan het gen <i>B4GALT7</i>, <i>B3GALT6</i> of <i>SLC39A13</i>, en met als klinisch overlappende kenmerken onder meer kleine gestalte (progressief in de kindertijd), hypermobiliteit van kleine gewrichten, hyperelastische huid en zachte, deegachtige huid op vooral handen en voeten, spierhypotonie (gaande van congenitaal ernstig tot mild met latere aanvang), skeletanomalieën, en, variabeler, osteopenie, motorische ontwikkelingsachterstand, en kromstand van ledematen. Genspecifieke kenmerken, met variabele presentatie, worden bijkomend geobserveerd bij elk subtype."},"pt":{"name":"Síndrome Ehlers-Danlos espondilodisplásico"},"pl":{"name":"Zespół Ehlersa i Danlosa kręgosłupowo-dysplastyczny","synonyms":["Spondylodysplastic EDS","spEDS"]},"cs":{"name":"Spondylodysplastický Ehlers-Danlosův syndrom","synonyms":["Spondylodysplastic EDS","spEDS"]},"uk":{"name":"Спондилодиспластичний синдром Елерса-Данлоса","synonyms":["spEDS","Спондилодиспластична EDS"],"definition":"A rare connective tissue disorder for which three subtypes exist, either related to the gene <i>B4GALT7</i>, <i>B3GALT6</i> or <i>SLC39A13</i>, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype."},"zh":{"name":"脊柱发育不良性埃勒斯-当洛斯综合征","synonyms":["Spondylodysplastic EDS","spEDS"],"definition":"一种罕见的结缔组织病，存在三个亚型，或与基因B4GALT7、B3GALT6或SLC39A13有关，其临床重叠特征包括身材矮小（儿童期进行性）、皮肤柔软、面团状、瘦弱、过度伸展、肌张力低下（从先天性重度到迟发性‐轻度），扁平足/马蹄内翻足/外翻足，更具多样性的特征有，骨质疏松症，认知和运动发育迟缓，和四肢弯曲。在每个亚型中还可观察到基因特异性特征，表现各异。"},"tr":{"name":"Spondilodisplastik Ehlers-Danlos sendromu","synonyms":["spEDS","Spondilodisplastik EDS"]}},"xrefs":[{"source":"OMIM","code":"130070","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615349","qualifier":"BTNT","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":"0034021","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680154","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":157965,"name":"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"B3GALT6","name":"beta-1,3-galactosyltransferase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23664117[PMID]","hgnc":"17978","ensembl":"ENSG00000176022","omim":"615291","loci":["1p36.33"],"via":{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"}},{"symbol":"B4GALT7","name":"beta-1,4-galactosyltransferase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15211654[PMID]","hgnc":"930","ensembl":"ENSG00000027847","omim":"604327","loci":["5q35.3"],"via":{"orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"}},{"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"],"via":{"orpha":157965,"name":"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"}}],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29931299[PMID]_26940150[PMID]_18513683[PMID]_18985159[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"29931299[PMID]_26940150[PMID]_18513683[PMID]_18985159[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-14","source":"29931299[PMID]_28882145[PMID]_31614862[PMID]","terms":[{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008453","label":"Congenital kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004993","label":"Slender long bones with narrow diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003368","label":"Abnormality of the femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010575","label":"Dysplasia of the femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040160","label":"Generalized osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011332","label":"Hemifacial hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003048","label":"Radial head subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040047","label":"Abnormality of the right hemidiaphragm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012687","label":"Agenesis of pineal gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001054","label":"Numerous nevi","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009944","label":"Partial duplication of thumb phalanx","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001043","label":"Prominent scalp veins","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004442","label":"Sagittal craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004269","label":"Subluxation of the small joints of the hand","frequency":"Very rare (<4-1%)","criteria":null}]}}