{"orpha":93296,"name":"Achondrogenesis type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Achondrogenesis, Langer-Saldino type"],"definition":"A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93296/","orphanet_url":"https://www.orpha.net/en/disease/detail/93296","names":{"fr":{"name":"Achondrogenèse type 2","synonyms":["Achondrogenèse type Langer-Saldino"],"definition":"L'achondrogenèse type 2, une forme d'achondrogenèse , est une dysplasie squelettique létale très rare qui appartient au spectre des maladies osseuses liées au collagène 2 caractérisée par une micromélie sévère, un cou court avec un visage large, un petit thorax, un abdomen protubérant, des poumons sous-développés, des traits faciaux distinctifs tels que front proéminent, petit menton, une fente palatine (dans certains cas) et des caractéristiques histologiques du cartilage distinctives."},"de":{"name":"Achondrogenesie Typ 2"},"es":{"name":"Acondrogénesis tipo 2","synonyms":["Acondrogénesis tipo Langer-Saldino"],"definition":"Es un tipo poco frecuente y letal de acondrogénesis, y parte del espectro de trastornos óseos relacionados con el colágeno tipo 2, caracterizado por grave micromelia, cuello corto, macrocefalia, tórax pequeño, abdomen protuberante, pulmones escasamente desarrollados, rasgos faciales distintivos: frente prominente, mentón pequeño, paladar hendido (en algunos casos) y rasgos distintivos de la histología del cartílago."},"it":{"name":"Acondrogenesi, tipo 2","synonyms":["Acondrogenesi, tipo Langer-Saldino"]},"nl":{"name":"Achondrogenesie type 2","synonyms":["Achondrogenesie, Langer-Saldino-type"],"definition":"Een zeldzaam, letaal type van achondrogenesie en deel van het spectrum van type 2 collageen-gerelateerde bontaandoeningen, gekarakteriseerd door ernstige micromelie, korte nek met groot hoofd, kleine thorax, vooruitstekend abdomen, onderontwikkelde longen, typische gelaatskenmerken zoals een prominent voorhoofd, kleine kin, gespleten gehemelte (bij sommigen) en typische histologische kenmerken van kraakbeen."},"pt":{"name":"Acondrogénese tipo 2"},"pl":{"name":"Achondrogeneza typu 2","synonyms":["Achondrogeneza typu Langera i Saldino"]},"cs":{"name":"Achondrogeneze, typ 2","synonyms":["Achondrogeneze, Langerův-Saldinův typ","Achondrogeneze, Langer-Saldinův typ"]},"uk":{"name":"Ахондрогенез, тип 2","synonyms":["Ахондрогенез, тип Лангера-Сальдіно"],"definition":"A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage."},"zh":{"name":"软骨成长不全2型","synonyms":["软骨成长不全，Langer-Saldino型"],"definition":"一种罕见的致死性软骨发育不全，属于2型胶原相关性骨病谱系的一部分，其特征是严重的四肢短小、短颈伴大头、胸部小、腹部隆起、肺发育不全、独特的面部特征（如突出的前额、小下颌、腭裂（某些患者））和软骨特殊的组织学特征。"},"tr":{"name":"Akondrogenez tip 2","synonyms":["Akondrogenez, Langer-Saldino tipi"]}},"xrefs":[{"source":"OMIM","code":"200610","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":"1935291412"},{"source":"MONDO","code":"0008702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220685","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":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10797431[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-19","source":"31021589[PMID]","terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004605","label":"Absent vertebral body mineralization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008788","label":"Delayed pubic bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031096","label":"Delayed vertebral ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030290","label":"Unossified sacrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006543","label":"Cardiorespiratory arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}