{"orpha":93298,"name":"Achondrogenesis type 1B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Achondrogenesis, Parenti-Fraccaro type"],"definition":"A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93298/","orphanet_url":"https://www.orpha.net/en/disease/detail/93298","names":{"fr":{"name":"Achondrogenèse type 1B","synonyms":["Achondrogenèse type Parenti-Fraccaro"],"definition":"L'achondrogenèse type 1B, une forme d'achondrogenèse , est une dysplasie squelettique létale rare caractérisée par une micromélie sévère avec des doigts et des orteils très courts, un visage plat, un cou court, des tissus mous épais sur la nuque, une hypoplasie du thorax, un abdomen protubérant, un aspect foetal hydropique et des caractéristiques histologiques du cartilages distinctives."},"de":{"name":"Achondrogenesie Typ 1B"},"es":{"name":"Acondrogénesis tipo 1B","synonyms":["Acondrogénesis tipo Parenti-Fraccaro"],"definition":"Es un tipo de acondrogénesis poco frecuente y letal caracterizado por grave micromelia, dedos de manos y pies muy cortos, cara aplanada, cuello corto, tejido blando engrosado alrededor del cuello, hipoplasia del tórax, abdomen protuberante, apariencia fetal hidrópica y rasgos distintivos de la histología del cartílago."},"it":{"name":"Acondrogenesi, tipo 1B","synonyms":["Acondrogenesi, tipo Parenti-Fraccaro"]},"nl":{"name":"Achondrogenesie type 1B","synonyms":["Achondrogenesie, Parenti-Fraccaro-type"],"definition":"Een zeldzaam, letaal type van achondrogenesie, gekarakteriseerd door ernstige micromelie met zeer korte vingers en tenen, een plat gelaat, korte nek, verdikt zacht weefsel rond de nek, hypoplasie van thorax, vooruitstekend abdomen, een hydropisch foetaal uiterlijk en typische histologische kenmerken van kraakbeen."},"pt":{"name":"Acondrogénese tipo 1B"},"pl":{"name":"Achondrogeneza typu 1B","synonyms":["Achondrogeneza typu Parenti i Fraccaro"]},"cs":{"name":"Achondrogeneze, typ 1B","synonyms":["Achondrogeneze, Parentiho-Fraccarův typ","Achondrogeneze, Parenti-Fraccarův typ"]},"uk":{"name":"Ахондрогенез, тип 1B","synonyms":["Ахондрогенез, тип Паренті-Фракаро"],"definition":"A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."},"zh":{"name":"软骨成长不全1B型","synonyms":["软骨成长不全，Parenti-Fraccaro型"],"definition":"一种罕见的致死性软骨发育不全，其特征是严重的四肢短小伴短指和短趾、面部扁平、颈部短、颈部周围软组织增厚、胸部发育不全、腹部隆起、胎儿水肿外观和软骨独特的组织学特征。"},"tr":{"name":"Akondrogenez tipi 1B","synonyms":["Akondrogenez, Parenti-Fraccaro tipi"]}},"xrefs":[{"source":"OMIM","code":"600972","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1740585991"},{"source":"MONDO","code":"0010966","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536016","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":932,"name":"Achondrogenesis","classifications":[147,156,199]},{"orpha":93423,"name":"Sulfation-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC26A2","name":"solute carrier family 26 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301689[PMID]","hgnc":"10994","ensembl":"ENSG00000155850","omim":"606718","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301689[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003336","label":"Abnormal enchondral ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005716","label":"Lethal skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null}]}}