{"orpha":85172,"name":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85172/","orphanet_url":"https://www.orpha.net/en/disease/detail/85172","names":{"fr":{"name":"Dysplasie ostéodysplasique microcéphalique type Saul-Wilson","definition":"La dysplasie ostéodysplasique microcéphalique type Saul-Wilson est une dysplasie squelettique caractérisée par un phénotype facial caractéristique, une petite taille, des pieds bots, des cataractes, et une microcéphalie. Elle a été décrite chez quatre patients. Les traits du visage incluent des bosses frontales avec une dépression au niveau de la suture métopique, une racine du nez étroite et un nez en bec, une hypoplasie médiofaciale avec des yeux proéminents. Des anomalies caractéristiques sont visibles à la radiographie (irrégularités des vertèbres, hypoplasie du processus odontoïde, des phalanges courtes, des épiphyses en cônes...)."},"de":{"name":"Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson","definition":"Diese Skelettdysplasie ist gekennzeichnet durch einen besonderen fazialen Phänotyp, Minderwuchs, Brachydaktylie, Klumpfuß-Deformität, Katarakt und Mikrozephalie."},"es":{"name":"Displasia microcefálica osteodisplásica tipo Saul Wilson","definition":"Es una displasia esquelética caracterizada por un fenotipo facial distintivo, talla baja, braquidactilia, deformidades del pie zambo, cataratas y microcefalia. Se ha descrito en cuatro pacientes. Las características faciales incluyen frente prominente con una depresión sobre la sutura metópica, raíz nasal estrecha con nariz picuda e hipoplasia mediofacial con propotosis ocular. También se han descrito hallazgos radiológicos característicos (irregularidades de los cuerpos vertebrales, hipoplasia de la apófisis odontoides, falanges cortas, epífisis en forma de cono, etc.)."},"it":{"name":"Displasia osteodisplastica microcefalica, tipo Saul-Wilson"},"nl":{"name":"Microcefale osteodysplastische dysplasie, Saul-Wilson-type","definition":"Microcefale osteodysplastische dysplasie, Saul-Wilson-type is een skeletdysplasie, gekenmerkt door een typisch fenotype van aangezicht, kleine gestalte, brachydactylie, klompvoet, cataract, en microcefalie. De aandoening werd beschreven bij vier patiënten. Gelaatskenmerken zijn onder meer boller voorhoofd met een depressie over sutura metopica (voorhoofdsnaad), a smalle neuswortel met snavelvormige neus, en hypoplasie van middengezicht met prominente ogen. Er worden typische radiografische bevindingen waargenomen (onder meer afwijkingen van wervellichamen, hypoplasie van processus odontoideus, korte falangen, kegelvormige epifysen)."},"pt":{"name":"Displasia osteodisplásica microcefálica, tipo Saul-Wilson"},"pl":{"name":"Mikrocefaliczna dysplazja osteodysplastyczna, typ Saula i Wilsona"},"cs":{"name":"Mikrocefalická osteodysplastická dysplázie, Saulův-Wilsonův typ","synonyms":["Mikrocefalická osteodysplastická dysplázie, Saul-Wilsonův typ"]},"uk":{"name":"Мікроцефальна остеодиспластична дисплазія, тип Саула-Вільсона","definition":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>)."},"zh":{"name":"小头骨发育不良症，Saul-Wilson型"},"tr":{"name":"Mikrosefalik osteodisplastik displazi, Saul-Wilson tipi"}},"xrefs":[{"source":"OMIM","code":"618150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"738688839"},{"source":"MONDO","code":"0019407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509877","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"COG4","name":"component of oligomeric golgi complex 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30290151[PMID]","hgnc":"18620","ensembl":"ENSG00000103051","omim":"606976","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8074143[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8074143[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"8074143[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004582","label":"Irregularity of vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011833","label":"Overhanging nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null}]}}