{"orpha":2658,"name":"Lenz-Majewski hyperostotic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lenz-Majewski hyperostotic dwarfism","Lenz-Majewski syndrome"],"definition":"A rare primary bone dysplasia characterized by growth delay, generalized and progressive craniotubular hyperostosis, intellectual disability, distinct craniofacial appearance, dental anomalies, loose skin, and distal-limb anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2658/","orphanet_url":"https://www.orpha.net/en/disease/detail/2658","names":{"fr":{"name":"Dysplasie hyperostosique de Lenz-Majewski","synonyms":["Nanisme hyperostosique de Lenz-Majewski","Syndrome de Lenz-Majewski"],"definition":"Dysplasie osseuse primaire rare caractérisée par un retard de croissance, une hyperostose craniotubulaire généralisée et progressive, une déficience intellectuelle, une dysmorphie craniofaciale, des anomalies dentaires, une peau lâche et des anomalies distales des membres."},"de":{"name":"Kleinwuchs, hyperostotischer, Typ Lenz-Majewski","synonyms":["Lenz-Majewski-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch Wachstumsverzögerung, generalisierte und progressive kraniotubuläre Hyperostose, Intelligenzminderung, auffälliges kraniofaziales Erscheinungsbild, Zahnanomalien, lockere Haut und Anomalien der distalen Extremitäten gekennzeichnet ist."},"es":{"name":"Displasia hiperostótica de Lenz-Majewski","synonyms":["Enanismo hiperostótico de Lenz-Majewski","Síndrome de Lenz-Majewski","Talla baja significativa hiperostótica de Lenz-Majewski"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por retraso del crecimiento, hiperostosis craneotubular generalizada y progresiva, discapacidad intelectual, apariencia craneofacial distintiva, alteraciones dentales, piel flácida y anomalías de las extremidades distales."},"it":{"name":"Displasia iperostotica di Lenz-Majewski","synonyms":["Nanismo iperostotico di Lenz-Majewski","Sindrome Lenz-Majewski"]},"nl":{"name":"Hyperostotische dysplasie Lenz-Majewski","synonyms":["Hyperostotische dysplasie, Lenz-Majewski-type","Lenz-Majewski hyperostotische dwerggroei","Syndroom van Lenz-Majewski"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door groeiachterstand, gegeneraliseerde en progressieve craniotubulaire hyperostose, intellectuele achterstand, specifieke craniofaciale kenmerken, dentale anomalieën, losse huid, en anomalieën van distale ledematen."},"pt":{"name":"Displasia hiperostótica Lenz-Majewski","synonyms":["Nanismo hiperostótico Lenz-Majewski","Síndrome Lenz-Majewski"],"definition":"O nanismo hiperostótico de Lenz-Majewski é uma síndrome extremamente rara que associa nanismo, aparência facial característica, cutis laxa e esclerose óssea progressiva."},"pl":{"name":"Dysplazja hiperostotyczna Lenza-Majewskiego","synonyms":["Lenz-Majewski hyperostotic dwarfism","Lenz-Majewski syndrome"]},"cs":{"name":"Lenzovo-Majewského hyperostické trpaslictví","synonyms":["Lenz-Majewského hyperostické trpaslictví"]},"uk":{"name":"Гіперостотична карликовість Ленца-Маєвського","definition":"An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis."},"zh":{"name":"Lenz-Majewski骨肥厚侏儒症"},"tr":{"name":"Lenz-Majewski hiperostotik cücelik"}},"xrefs":[{"source":"OMIM","code":"151050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1509425242"},{"source":"MONDO","code":"0007892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3223","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PTDSS1","name":"phosphatidylserine synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24241535[PMID]","hgnc":"9587","ensembl":"ENSG00000156471","omim":"612792","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"40524567[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-26","source":"15266607[PMID]_19079258[PMID]","terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005465","label":"Facial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011002","label":"Osteopetrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}