{"orpha":1826,"name":"Frontometaphyseal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1826/","orphanet_url":"https://www.orpha.net/en/disease/detail/1826","names":{"fr":{"name":"Dysplasie fronto-métaphysaire","definition":"La dysplasie fronto-métaphysaire (DFM) appartient au spectre du syndrome oto-palato-digital , et est caractérisée par une ossification et un schéma anormaux du squelette axial et appendiculaire, une dysmorphie faciale et une perte auditive de conduction et sensorineurale."},"de":{"name":"Dysplasie, fronto-metaphysäre"},"es":{"name":"Displasia frontometafisaria","definition":"Es una displasia ósea que pertenece al espectro del síndrome otopalatodigital y que está caracterizada por una osificación y patrón anómalos del esqueleto axial y apendicular, dismorfia facial y pérdida auditiva conductiva y neurosensorial."},"it":{"name":"Displasia frontometafisaria","definition":"La displasia frontometafisaria (FMD) è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da anomalie dell'ossificazione e della morfogenesi scheletrica delle regioni assiali e appendicolari, dismorfismi facciali, e sordità neurosensoriale e di conduzione."},"nl":{"name":"Frontometafysaire dysplasie","definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door abnormale ossificatie en patroonvorming van het axiale en appendiculaire skelet, faciale dysmorfie, en conductief en sensorineuraal gehoorverlies."},"pt":{"name":"Displasia fronto-metafísária"},"pl":{"name":"Dysplazja czołowo-przynasadowa"},"cs":{"name":"Frontometafyzární dysplázie"},"uk":{"name":"Фронтометафізарна дисплазія","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss."},"zh":{"name":"额骨干骺端结构不良"},"tr":{"name":"Frontometafizyal displazi"}},"xrefs":[{"source":"OMIM","code":"305620","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617137","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1767187670"},{"source":"MONDO","code":"0015942","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265293","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"826","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"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":364541,"name":"Otopalatodigital syndrome spectrum disorder","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"16596676[PMID]_16835913[PMID]_20301567[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]},{"symbol":"MAP3K7","name":"mitogen-activated protein kinase kinase kinase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27426733[PMID]","hgnc":"6859","ensembl":"ENSG00000135341","omim":"602614","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"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":"2020-05-28","source":"20301567[PMID]_28498505[PMID]_29660408[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001220","label":"Interphalangeal joint contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010501","label":"Limitation of knee mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010505","label":"Limitation of movement at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006070","label":"Metacarpophalangeal joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002694","label":"Sclerosis of skull base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000941","label":"Short diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009650","label":"Short distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008661","label":"Urethral stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006006","label":"Hypotrophy of the small hand muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006383","label":"Progressive bowing of long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008952","label":"Shoulder muscle hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null}]}}