{"orpha":93352,"name":"Spondyloepimetaphyseal dysplasia, Shohat type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD, Shohat type"],"definition":"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93352/","orphanet_url":"https://www.orpha.net/en/disease/detail/93352","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Shohat","synonyms":["SEMD type Shohat"],"definition":"La dysplasie spondylo-épimétaphysaire (DSEM) type Shohat se caractérise par une petite taille très disproportionnée, des membres courts, un petit thorax, un cou court, des lèvres fines, une lordose lombaire sévère, un <i>genu varum</i>, une laxité articulaire, une distension de l'abdomen, et une hépatosplénomégalie modérée."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Shohat","definition":"Die Spondylo-epi-metaphysäre Dysplasie Typ Shohat ist gekennzeichnet durch hochgradig dysproportionierten Kleinwuchs, kurze Gliedmaßen, kleinen Thorax, kurzen Hals, dünne Lippen, schwere Lendenlordose, ausgeprägtes Genu varum, schlaffe Gelenke, aufgetriebenes Abdomen, leichte Hepatomegalie und Splenomegalie."},"es":{"name":"Displasia espondiloepimetafisaria tipo Shohat","synonyms":["SEMD tipo Shohat"],"definition":"La displasia espondiloepimetafisaria congénita tipo Shohat se caracteriza por: talla desproporcionadamente baja, extremidades cortas, tórax corto, cuello corto, labios finos, lordosis lumbar grave, genu varo marcado, laxitud articular, abdomen distendido, hepatomegalia y esplenomegalia moderada."},"it":{"name":"Displasia spondiloepimetafisaria, tipo Shohat","synonyms":["SEMD, tipo Shohat"]},"nl":{"name":"Spondylo-epimetafysaire dysplasie, Shohat-type","synonyms":["SEMD, Shohat-type"],"definition":"Spondylo-epimetafysaire dysplasia congenita, Shohat-type wordt gekenmerkt door ernstige disproportioneel kleine gestalte, korte ledematen, kleine borstkas, korte hals, dunne lippen, ernstige lumbale lordose, aanzienlijke genu varum (O-benen), gewrichtslaxiteit, distensie van abdomen, milde hepatomegalie en splenomegalie."},"pt":{"name":"Displasia espondiloepimetafisária, tipo Shohat","synonyms":["SEMD, tipo Shohat"],"definition":"A displasia espondiloepimetafisária congénita, tipo Shohat é caracterizada por baixa estatura gravemente desproporcionada, membros curtos, tórax pequeno, pescoço curto, lábios finos, lordose lombar grave, joelho varo marcado, laxidez das articulações, abdómen distendido, hepamegalia ligeira e esplenomegalia."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Shohat","synonyms":["SEMD, typ Shohat"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, Shohatův typ","synonyms":["SEMD, Shohatův typ"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Шохата","synonyms":["SEMD, тип Shohat"],"definition":"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly."},"zh":{"name":"脊椎干骺端发育不良，Shohat型","synonyms":["SEMD，Shohat型"],"definition":"Shohat型先天性脊椎骨骺-干骺端发育不良的特点是严重不成比例的身材矮小、四肢、胸小、颈短、唇薄、严重的腰椎前凸、显著的膝内翻、关节松弛、腹部膨隆、肝脾轻度肿大。"},"tr":{"name":"Spondiloepimetafizyal displazi, Shohat tipi","synonyms":["SEMD, Shohat tipi"]}},"xrefs":[{"source":"OMIM","code":"602557","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1389783101"},{"source":"MONDO","code":"0011252","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865185","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"DDRGK1","name":"DDRGK domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28263186[PMID]","hgnc":"16110","ensembl":"ENSG00000198171","omim":"616177","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8357004[PMID]_8074146[PMID]_28263186[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28263186[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"28263186[PMID]_8074146[PMID]_8357004[PMID]","terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008463","label":"Central vertebral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006462","label":"Generalized bone demineralization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003099","label":"Fibular overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008450","label":"Narrow vertebral interpedicular distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008418","label":"Squared-off platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null}]}}