{"orpha":1865,"name":"Dyssegmental dysplasia, Silverman-Handmaker type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1865/","orphanet_url":"https://www.orpha.net/en/disease/detail/1865","names":{"fr":{"name":"Dysplasie dyssegmentaire type Silverman-Handmaker","definition":"La dysplasie dyssegmentaire type Silverman-Handmaker est une dysplasie génétique osseuse primaire rare, et une forme létale de nanisme néonatal avec membres courts. Elle se caractérise par une anisospondylie, une petite taille très prononcée, un raccourcissement des membres, des métaphyses évasées et une dysmorphie faciale caractéristique (visage plat, oreilles anormales, cou court, thorax étroit). Les signes additionnels incluent d'autres manifestations squelettiques (contractures articulaires, membres courbés, pieds bots varus équins), ainsi que des anomalies urogénitales et cardiovasculaires."},"de":{"name":"Dysplasie, dyssegmentale, Typ Silverman-Handmaker","definition":"Eine seltene, genetisch bedingte, primäre Knochendysplasie-Erkrankung und eine letale Form des neonatalen Kleinwuchses, die durch Anisospondylie, schwere Kleinwüchsigkeit und Gliedmaßenverkürzung, metaphysäre Verbreiterung und ausgeprägte dysmorphe Merkmale (z. B. flaches Gesicht, Ohrenanomalien, kurzer Hals, schmaler Brustkorb) gekennzeichnet ist. Zusätzliche Merkmale können andere Skelettbefunde (z. B. Gelenkkontrakturen, gekrümmte Gliedmaßen, Talipes equinovarus) und urogenitale und kardiovaskuläre Anomalien umfassen."},"es":{"name":"Displasia disegmentaria tipo Silverman-Handmaker","definition":"La displasia disegmentaria tipo Silverman-Handmaker es un trastorno genético poco frecuente de displasia ósea primaria y una forma letal de enanismo de extremidades cortas neonatal, caracterizado por anisospondilia, baja estatura y grave acortamiento de las extremidades, ensanchamiento metafisario y características dismórficas distintivas (es decir, apariencia facial plana, orejas anómalas, cuello corto, tórax estrecho). Las características adicionales pueden incluir otros hallazgos esqueléticos (por ejemplo, contracturas articulares, miembros arqueados, talipes equinovarus) y anomalías urogenitales y cardiovasculares."},"it":{"name":"Displasia dissegmentaria, tipo Silverman Handmaker","definition":"La displasia dissegmentaria tipo Silverman-Handmaker è una displasia scheletrica primitiva genetica rara, una forma letale del nanismo neonatale ad arti corti. È caratterizzata da anisospondilia, statura notevolmente bassa e marcato accorciamento degli arti, allargamento delle metafisi e dismorfismi caratteristici (viso appiattito, anomalie dell'orecchio, collo corto, torace stretto). Possono essere presenti altri segni clinici scheletrici (contratture articolari, arti arcuati, piedi torti equino-vari) e anomalie cardiovascolari e delle vie urogenitali."},"nl":{"name":"Dyssegmentale dysplasie, Silverman-Handmaker-type","definition":"Dyssegmentale dysplasie, Silverman-Handmaker-type is een zeldzame, genetische, primaire botdysplasie, en een letale vorm van neonatale dwerggroei met korte ledematen, die gekarakteriseerd wordt door anisospondylie, ernstige kleine gestalte en verkorting van de ledematen, metafysaire verwijding en typische dysmorfe kenmerken (i.e. plat uiterlijk van het gelaat, abnormale oren, korte hals, smalle borstkas). Bijkomende kenmerken kunnen onder meer andere skeletale bevindingen (e.g. gewrichtscontracturen, gebogen ledematen, talipes equinovarus (klompvoet)) en urogenitale en cardiovasculaire afwijkingen omvatten."},"pt":{"name":"Displasia dissegmentar, tipo Silverman-Handmaker"},"pl":{"name":"Dysplazja typu Silvermana i Handmakera"},"cs":{"name":"Dyssegmentální dysplázie, Silvermanův-Handmakerův typ","synonyms":["Dyssegmentální dysplázie, Silverman-Handmakerův typ"]},"uk":{"name":"Диссегментарна дисплазія, тип Сільвермана-Хендмейкера","definition":"Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."},"zh":{"name":"节段性发育异常，Silverman-Handmaker型"},"tr":{"name":"Dissegmental displazi, Silverman-Handmaker tipi"}},"xrefs":[{"source":"OMIM","code":"224410","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":"1486595955"},{"source":"MONDO","code":"0009140","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2026","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"HSPG2","name":"heparan sulfate proteoglycan 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11279527[PMID]","hgnc":"5273","ensembl":"ENSG00000142798","omim":"142461","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20542149[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"32936525[PMID]_20542149[PMID]","terms":[{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002879","label":"Anisospondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","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:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005622","label":"Broad long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032548","label":"Increased placental thickness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}