{"orpha":969,"name":"Acromicric dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-969/","orphanet_url":"https://www.orpha.net/en/disease/detail/969","names":{"fr":{"name":"Dysplasie acromicrique","definition":"La dysplasie acromicrique est une dysplasie osseuse rare caractérisée par une petite taille, des mains et des pieds courts, une légère dysmorphie faciale et des anomalies des mains caractéristiques à la radiographie."},"de":{"name":"Dysplasie, akromikrische","definition":"Die Akromikrische Dysplasie ist eine seltene Knochendysplasie und gekennzeichnet durch Kleinwuchs, kurze Hände und Füße, leichte faziale Dysmorphien und charakteristische Röntgenbefunde an den Händen."},"es":{"name":"Displasia acromícrica","definition":"Es una displasia ósea muy poco frecuente caracterizada por talla baja, manos y pies cortos, leve dismorfia facial y anomalías radiológicas características de las manos."},"it":{"name":"Displasia acromicrica","definition":"La displasia acromicrica è una displasia ossea rara, caratterizzata da bassa statura, mani e piedi corti, lievi dismorfismi facciali e anomalie scheletriche delle mani, caratteristiche all'esame radiologico."},"nl":{"name":"Acromicrische dysplasie","definition":"Een zeldzame botdysplasie, gekarakteriseerd door kleine gestalte, korte handen en voeten, milde faciale dysmorfie, en typische afwijkingen op röntgenopnames van de handen."},"pt":{"name":"Displasia acromícrica","definition":"Displasia óssea rara caracterizada por baixa estatura, encurtamento das mãos e pés, dismorfismo facial ligeiro e alterações características no raio-X das mãos."},"pl":{"name":"Dysplazja","definition":"Dysplazja akromikryczna jest rzadko występującą dysplazją, charakteryzującą się niskim wzrostem, małymi dłoniami i stopami, umiarkowaną dysmorfią twarzy i charakterystycznymi zmianami w obrazie radiologicznym dłoni."},"cs":{"name":"Akromikrická dysplázie"},"uk":{"name":"Акромікрична дисплазія","definition":"A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands."},"zh":{"name":"肢端发育不良"},"tr":{"name":"Akromikrik displazi"}},"xrefs":[{"source":"OMIM","code":"102370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1006372687"},{"source":"MONDO","code":"0007055","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083854","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2569,"name":"Moore-Federman syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21683322[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]},{"symbol":"LTBP3","name":"latent transforming growth factor beta binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27068007[PMID]","hgnc":"6716","ensembl":"ENSG00000168056","omim":"602090","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005900","label":"Fifth metacarpal with ulnar notch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null}]}}