{"orpha":1423,"name":"Lethal recessive chondrodysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Maroteaux-Stanescu-Cousin syndrome"],"definition":"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1423/","orphanet_url":"https://www.orpha.net/en/disease/detail/1423","names":{"fr":{"name":"Chondrodysplasie létale autosomique récessive","synonyms":["Syndrome de Maroteaux-Stanescu-Cousin"],"definition":"La chondrodysplasie létale autosomique récessive est une forme létale extrêmement rare de chondrodysplasie caractérisée par un nanisme micromélique sévère, des membres courts et incurvés avec des mains et des pieds normaux, une dysmorphie faciale (crâne disproportionné, front proéminent, pont nasal légèrement aplati et cou court), une hypotonie musculaire, une hyperlaxité des extrémités et un thorax étroit. La plupart des patients décèdent de détresse respiratoire au cours des premières heures ou semaines de vie. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Chondrodysplasie, letale, rezessive","synonyms":["Maroteaux-Stanescu-Cousin-Syndrom"]},"es":{"name":"Condrodisplasia recesiva letal","synonyms":["Síndrome de Maroteaux-Stanescu-Cousin"],"definition":"Es una forma letal extremadamente infrecuente de condrodisplasia caracterizada por enanismo micromélico grave, extremidades cortas e incurvadas con manos y pies normales, dismorfia facial (cráneo desproporcionadamente grande, prominencia frontal, puente nasal ligeramente aplanado y cuello corto), hipotonía muscular, hiperlaxitud de las extremidades, y tórax angosto. La mayoría de los pacientes fallece por dificultad respiratoria durante las primeras horas o semanas de vida. No ha habido más descripciones en la literatura desde 1988."},"it":{"name":"Condrodisplasia letale recessiva","synonyms":["Sindrome di Maroteaux-Stanescu-Cousin"]},"nl":{"name":"Letale recessieve chondrodysplasie","synonyms":["Syndroom van Maroteaux-Stanescu-Cousin"],"definition":"Letale recessieve chondrodysplasie is een uiterst zeldzame dodelijke vorm van chondrodysplasie en wordt gekenmerkt door ernstige dwerggroei met micromelie, korte en naar binnen gebogen ledematen met normale handen en voeten, dysmorfie van het gezicht (onevenredig grote schedel, prominent voorhoofd, enigszins afgeplatte neusbrug en korte nek), spierhypotonie, hyperlaxiteit van de extremiteiten en een smalle thorax. De meeste patiënten sterven aan ademnood gedurende de eerste uren of weken van het leven. Sinds 1988 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Condrodisplasia letal recessiva","synonyms":["Síndrome Maroteaux-Stanescu-Cousin"]},"pl":{"name":"Śmiertelna recesywna chondrodysplazja","synonyms":["Zespół Maroteaux, Stanescu i Cousina"]},"cs":{"name":"Letální recesivní chondrodysplázie","synonyms":["Maroteauxův-Stanescuho-Cousinův syndrom","Maroteaux-Stanescu-Cousinův syndrom"]},"uk":{"name":"Летальна рецесивна хондродисплазія","synonyms":["Синдром Марото-Станеску-Кузена"],"definition":"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988."},"zh":{"name":"致死性隐性软骨发育不全","synonyms":["Maroteaux-Stanescu-Cousin综合征"]},"tr":{"name":"Letal resesif kondrodisplazi","synonyms":["Maroteaux-Stanescu-Cousin sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"550352998"},{"source":"MONDO","code":"0015425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304745","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93465,"name":"Lethal chondrodysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3396596[PMID]"},{"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":"2016-07-11","source":"10552065[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003950","label":"Flared metaphyses (elbow)","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null}]}}