{"orpha":85167,"name":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMD-CRD"],"definition":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85167/","orphanet_url":"https://www.orpha.net/en/disease/detail/85167","names":{"fr":{"name":"Syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets","synonyms":["SMD-CRD","Syndrome de dysplasie spondylo-métaphysaire-dystrophie cone-rod"],"definition":"Le syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets est caractérisé par l'association d'une dysplasie spondylométaphysaire (avec platyspondylie, raccourcissement des os tubulaires et irrégularité et déformation progressives des métaphyses), d'un retard de croissance postnatal et d'une baisse progressive de l'acuité visuelle due à une dystrophie cônes-bâtonnets. A ce jour, ce syndrome a été décrit chez huit patients. Le mode de transmission semble être autosomique récessif."},"de":{"name":"Spondylometaphysäre Dysplasie mit Zapfen-Stäbchendystrophie","synonyms":["SMD-CRD"],"definition":"Dieses Syndrom ist gekennzeichnet durch spondylo-metaphysäre Dysplasie (mit Platyspondylie, verkürzten Röhrenknochen und zunehmend sich ausprägender Becherform der Metaphysen), postnatalen Minderwuchs und progrediente Verschlechterung des Visus durch Zäpfchen-Stäbchen-Dystrophie."},"es":{"name":"Síndrome de displasia espondilometafisaria-distrofia de conos-bastones","synonyms":["SMD-CRD"],"definition":"Es un síndrome caracterizado por la asociación de displasia espondilometafisaria (marcada por platispondilia, acortamiento de los huesos tubulares e irregularidad metafisaria y ahuecamiento progresivos), con retraso del crecimiento posnatal y afectación visual progresiva debido a la distrofia de conos y bastones. Hasta la fecha, se ha descrito en ocho individuos. La transmisión parece ser autosómica recesiva."},"it":{"name":"Displasia spondilometafisaria - distrofia dei coni e dei bastoncelli","synonyms":["SMD-CRD"]},"nl":{"name":"Spondylometafysaire dysplasie - kegel-staafdystrofie-syndroom","synonyms":["SMD-CRD"],"definition":"Spondylometafysaire dysplasie - kegel-staafdystrofie-syndroom wordt gekenmerkt door de associatie van spondylometafysaire dysplasie (gekenmerkt door platyspondylie, abnormaal korte pijpbeenderen, en progressieve afwijkingen en verbreding van metafysen) met postnatale groeiretardatie en progressief verlies van gezichtsvermogen door kegel-staafdystrofie. Tot op heden werd de aandoening beschreven bij acht individuen. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"DSíndrome de displasia espondilometafisária-distrofia de cones e bastonetes","synonyms":["SMD-CRD"]},"pl":{"name":"Dysplazja kręgowo-przynasadowa - dystrofia czopków i pręcików","synonyms":["SMD-CRD"]},"cs":{"name":"Syndrom zahrnující spondylometafyzární dysplázii a dystrofii tyčinek a čípků","synonyms":["SMD-CRD"]},"uk":{"name":"Синдром спондилометафізарної дисплазії - конусовидної дистрофії","synonyms":["SMD-CRD"],"definition":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."},"zh":{"name":"脊椎干骺端发育不良-视锥-视杆细胞营养不良综合征","synonyms":["SMD-CRD"]},"tr":{"name":"Spondilometafizer displazi-koni-çubuk distrofisi sendromu","synonyms":["SMD-CRD"]}},"xrefs":[{"source":"OMIM","code":"608940","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":"430156722"},{"source":"MONDO","code":"0012160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304887","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10647","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":[{"symbol":"PCYT1A","name":"phosphate cytidylyltransferase 1A, choline","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24387990[PMID]_24387991[PMID]","hgnc":"8754","ensembl":"ENSG00000161217","omim":"123695","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"24387990[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-20","source":"24387991[PMID]_30559292[PMID]_24476460[PMID]","terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000548","label":"Cone/cone-rod dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010583","label":"Ivory epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005054","label":"Metaphyseal spurs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000887","label":"Cupped ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031171","label":"Femoral spur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003375","label":"Narrow greater sciatic notch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012153","label":"Hypotriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007401","label":"Macular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007688","label":"Undetectable light- and dark-adapted electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}