{"orpha":560,"name":"Marshall syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-560/","orphanet_url":"https://www.orpha.net/en/disease/detail/560","names":{"fr":{"name":"Syndrome de Marshall","definition":"Le syndrome de Marshall est un syndrome malformatif caractérisé par une dysmorphie faciale, une hypoplasie des os propres du nez et des sinus frontaux, une atteinte oculaire, une perte auditive d'apparition précoce, des anomalies squelettiques et une dysplasie ectodermique hypohidrotique. Une petite taille associée à une dysplasie spondylo-épiphysaire et une ostéoarthrite d'apparition précoce peuvent aussi être observées."},"de":{"name":"Marshall-Syndrom"},"es":{"name":"Síndrome de Marshall","definition":"Es un síndrome malformativo caracterizado por dismorfia facial, hipoplasia grave de los huesos nasales y senos frontales, afectación ocular, pérdida auditiva de inicio temprano, anomalías esqueléticas y ectodérmicas anhidróticas, y talla baja con displasia espondiloepifisaria, así como artrosis de inicio precoz."},"it":{"name":"Sindrome di Marshall","definition":"La sindrome di Marshall è una malattia malformativa caratterizzata da dismorfismi facciali, ipoplasia grave delle ossa del naso e dei seni frontali, interessamento oculare, ipoacusia precoce, anomalie scheletriche e ectodermiche anidrotiche, bassa statura con displasia spondilo-epifisaria e osteoartrite ad esordio precoce."},"nl":{"name":"Syndroom van Marshall","definition":"Een malformatiesyndroom gekarakteriseerd door faciale dysmorfie, ernstige hypoplasie van neusbeenderen en frontale sinussen, oculaire betrokkenheid, vroeg aanvangend gehoorverlies, skeletale en anhidrotische ectodermale anomalieën en kleine gestalte met spondylo-epifysaire dysplasie en vroeg aanvangende osteoartritis."},"pt":{"name":"Síndrome Marshall"},"pl":{"name":"Zespół Marshalla"},"cs":{"name":"MRSHS syndrom"},"uk":{"name":"Синдром Маршалла","definition":"A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis."},"zh":{"name":"marshall综合征"},"tr":{"name":"Marshall sendromu"}},"xrefs":[{"source":"OMIM","code":"154780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1401051186"},{"source":"MONDO","code":"0007949","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265235","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6984","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"17236192[PMID]_19449424[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17236192[PMID]_19449424[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002738","label":"Hypoplastic frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}