{"orpha":168549,"name":"Axial spondylometaphyseal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168549/","orphanet_url":"https://www.orpha.net/en/disease/detail/168549","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire axiale","definition":"Type rare de dysplasie spondylo-métaphysaire caractérisée par des lésions métaphysaires des os du tronc, associée à une dystrophie rétinienne. On observe généralement un retard progressif de croissance post-natale, un raccourcissement rhizomélique des membres, une déformation et une hypoplasie du thorax et une rétinite pigmentaire ou une dégénérescence pigmentaire de la rétine. L'examen radiologique met en évidence des côtes courtes avec des extrémités dont la face antérieure est évasée et en forme de coupe, une légère platyspondylie, des crêtes iliaques aux bords irréguliers et une dysplasie métaphysaire de l'extrémité proximale du fémur."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, axiale Form"},"es":{"name":"Displasia espondilometafisaria axial","definition":"Es un tipo poco frecuente de displasia espondilometafisaria caracterizada por cambios metafisarios de los huesos troncales-yuxtatroncales asociados a distrofia retiniana. Los afectados suelen presentar retraso progresivo del crecimiento posnatal con acortamiento rizomélico de las extremidades y malformación e hipoplasia torácica, así como retinosis pigmentaria o degeneración pigmentaria de la retina. Los hallazgos radiológicos incluyen costillas cortas con extremos anteriores ahuecados y acampanados, con leve platispondilia, illium esponjoso y displasia metafisaria de los fémures proximales."},"it":{"name":"Displasia spondilometafisaria assiale","definition":"La displasia spondilometafisaria assiale è una forma rara di displasia spondilometafisaria, caratterizzata da alterazioni metafisarie delle ossa del tronco e di quelle in prossimità del tronco, associate alla distrofia della retina. Di solito i pazienti presentano un ritardo progressivo della crescita postnatale, associato ad un accorciamento rizomelico degli arti, deformazione ed ipoplasia del torace e retinite pigmentosa o degenerazione pigmentaria della retina. Le radiografie evidenziano costole corte con estremità anteriori svasate a forma di coppa, lieve platispondilia, ilei dall'aspetto simile ad un pizzo e displasia metafisaria dei femori prossimali."},"nl":{"name":"Axiale spondylometafysaire dysplasie","definition":"Axiale spondylometafysaire dysplasie is een zeldzaam type van spondylometafysaire dysplasie dat gekarakteriseerd wordt door metafysaire veranderingen van de truncale-juxtatruncale botten, geassocieerd met retinadystrofie. Patiënten vertonen doorgaans progressief postnataal groeifalen met rhizomele verkorting van de ledematen, een misvormde, hypoplastische thorax, en retinitis pigmentosa of pigmentaire retinadegeneratie. Radiografische bevindingen omvatten korte ribben met wijd uitlopende, komvormige anterieure uiteinden, milde platyspondylie, reticulaire ilia en metafysaire dysplasie van de proximale dijbeenderen."},"pt":{"name":"Displasia espondilometafisária axial"},"pl":{"name":"Osiowa dysplazja kręgowo-przynasadowa","definition":"*Osiowa dysplazja kręgowo-przynasadowa jest rzadkim typem dysplazji kręgowo-przynasadowej. Charakteryzuje się zmianami w obrębie przynasad kości tułowia, którym towarzyszy dystrofia siatkówki. Klinicznie stwierdza się postępujące postnatalne zahamowanie wzrastania z rizomelicznym skróceniem kończyn, zdeformowaną, hipoplastyczną klatkę piersiową oraz retinopatię barwnikową lub zwyrodnienie barwnikowe siatkówki. W badaniu radiologicznym widoczne są krótkie żebra z rozszerzonymi, kubkowatymi przednimi końcami, łagodne spłaszczenie trzonów kręgowych, nieregularny brzeg kości biodrowych i dysplazję przynasad bliższego końca kości udowej."},"cs":{"name":"Axiální spondylometafyzární dysplázie"},"uk":{"name":"Аксіальна спондилометафізарна дисплазія","definition":"Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora."},"zh":{"name":"轴性椎体干骺端发育不良","definition":"轴向脊椎干骺端发育不良是一种罕见的脊椎干骺端发育不良，其主要特征为躯干骨干骺端改变，与视网膜营养性萎缩有关。患者通常表现为出生后进行性生长障碍，肢体近端缩短，胸部畸形、发育不良，色素性视网膜炎或视网膜色素变性。影像学表现为喇叭状短肋、杯状肋骨，轻度扁平椎骨、花边样髂嵴和股骨近端干骺端发育不良。"},"tr":{"name":"Eksenel spondilometafizeal displazi"}},"xrefs":[{"source":"OMIM","code":"602271","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"834893572"},{"source":"MONDO","code":"0011211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8720","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"26974433[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26974433[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-23","source":"23371363[PMID]_26974433[PMID]","terms":[{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045027","label":"Abnormality of the thoracic cavity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000887","label":"Cupped ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000886","label":"Deformed rib cage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008786","label":"Iliac crest serration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006431","label":"Proximal femoral metaphyseal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006712","label":"Aplasia/Hypoplasia of the ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008515","label":"Aplasia/Hypoplasia of the vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006603","label":"Flared, irregular rib ends","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006589","label":"Flaring of lower rib cage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012774","label":"Increased upper to lower segment ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003411","label":"Proximal femoral metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001216","label":"Delayed ossification of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003375","label":"Narrow greater sciatic notch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007769","label":"Peripheral retinal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008444","label":"Posterior wedging of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}