{"orpha":2616,"name":"3M syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["3-M syndrome","Yakut short stature syndrome"],"definition":"A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2616/","orphanet_url":"https://www.orpha.net/en/disease/detail/2616","names":{"fr":{"name":"Syndrome 3M","synonyms":["Nanisme 3M","Petite taille type iakoute","Petite taille type yakoute","Syndrome 3-M"],"definition":"Nanisme primordial rare caractérisé par un faible poids et une petite taille à la naissance, un retard sévère de croissance postnatale, une taille relativement grande de la tête, un spectre d'anomalies mineures (incluant une dysmorphie faciale) en l'absence de déficience intellectuelle."},"de":{"name":"3M-Syndrom","synonyms":["Kleinwuchssysndrom Yakut"],"definition":"Das 3M-Syndrom ist eine primordiale Wachstumsstörung, die durch ein niedriges Geburtsgewicht, eine reduzierte Körperlänge bei Geburt, eine schwere postnatale Wachstumsrestriktion, eine Reihe von kleineren Anomalien (inklusive fazialen Dysmorphien) und normaler Intelligenz gekennzeichnet ist."},"es":{"name":"Síndrome 3M","synonyms":["Síndrome 3-M","Síndrome de talla baja de Yakut"],"definition":"Es un trastorno de crecimiento primordial poco frecuente caracterizado por bajo peso y talla al nacimiento, grave restricción del crecimiento postnatal, perímetro cefálico elevado, acompañados de un espectro de anomalías menores (incluyendo dismorfia facial) e inteligencia normal."},"it":{"name":"Sindrome 3M","synonyms":["Displasia dolicospondilica","Sindrome 3-M","Sindrome da bassa statura di Yakut","Sindrome della faccia cupa","Sindrome di Le Merrer"],"definition":"La sindrome 3M è una malattia rara dello sviluppo che interessa le prime fasi della crescita; è caratterizzata da scarso peso e ridotta lunghezza alla nascita, grave deficit della crescita postnatale, aumento della circonferenza cranica, anomalie minori (che comprendono i dismorfismi facciali) e un'intelligenza normale."},"nl":{"name":"3M-syndroom","synonyms":["3-M-syndroom","Kleine gestalte-syndroom, Yakut-type"],"definition":"Een zeldzame aandoening van primordiale groei, gekarakteriseerd door laag geboortegewicht, kleinere lichaamslengte bij de geboorte, ernstige postnatale groeirestrictie, grote omvang van hoofd, een spectrum van kleine anomalieën (waaronder faciale dysmorfie), en normale intelligentie."},"pt":{"name":"Síndrome 3M","synonyms":["Displasia dolicospondilítica","Síndrome Le Merrer","Síndrome face tristonha"]},"pl":{"name":"Zespół 3M","synonyms":["Dysplazja dolichosponydyliczna","Zespół 3-M","Zespół Le Merrer","Zespół niskiego wzrostu Yakutów","Zespół ponurej/posępnej/ twarzy"]},"cs":{"name":"3M syndrom","synonyms":["3-M syndrom","Dolichospondylická dysplázie","Le Merrerové syndrom","Jakutský syndrom nízkého vzrůstu","Syndrom zasmušilé tváře"]},"uk":{"name":"Синдром 3М","synonyms":["Синдром 3-М","Якутський синдром низького зросту"],"definition":"A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence."},"zh":{"name":"3M综合征","synonyms":["雅库特身材矮小症"]},"tr":{"name":"3M sendromu","synonyms":["3-M sendromu","Le Merrer sendromu","Kasvetli yüz sendromu","Dolikospondilik displazi","Yakut kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"273750","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612921","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614205","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1926529492"},{"source":"MONDO","code":"0007477","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535314","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5667","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2661,"name":"Dwarfism-tall vertebrae syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CCDC8","name":"coiled-coil domain containing 8 subunit of 3M complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301654[PMID]_21737058[PMID]","hgnc":"25367","ensembl":"ENSG00000169515","omim":"614145","loci":["19q13.32"]},{"symbol":"CUL7","name":"cullin 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301654[PMID]","hgnc":"21024","ensembl":"ENSG00000044090","omim":"609577","loci":["6p21.1"]},{"symbol":"OBSL1","name":"obscurin like cytoskeletal adaptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301654[PMID]","hgnc":"29092","ensembl":"ENSG00000124006","omim":"610991","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22624670[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004570","label":"Increased vertebral height","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000888","label":"Horizontal ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}