{"orpha":572773,"name":"Microcephaly-short stature-limb abnormalities syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MISSLA"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572773/","orphanet_url":"https://www.orpha.net/en/disease/detail/572773","names":{"fr":{"name":"Syndrome de microcéphalie-petite taille-anomalies des membres","synonyms":["MISSLA"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par une microcéphalie sévère, un retard de croissance intra-utérin, une petite taille et des anomalies variables des membres telles que des anomalies des rayons radiaux, des membres courts, des rotules absentes/hypoplastiques, une syndactylie, une brachydactylie et des os carpiens ou métacarpiens hypoplastiques. La dysmorphie craniofaciale se caractérise par un nez long et large, une microstomie et une micrognathie. Lorsqu'elle est présente, la déficience intellectuelle est légère. Dans les cas présentant un phénotype extrêmement sévère avec des membres très courts et un développement pulmonaire insuffisant, l'issue est fatale en période périnatale."},"de":{"name":"Mikrozphalie-Kleinwuchs-Extremitätenanomalien-Syndrom","synonyms":["MISSLA"],"definition":"Ein seltenes genetisches Syndrom mit multiplen angeborenen Anomalien, das durch schwere Mikrozephalie, intrauterine Wachstumsverzögerung, Kleinwuchs und variable Gliedmaßenanomalien wie Radialstrahlfehlbildungen, kurze Gliedmaßen, fehlende/hypoplastische Patellae, Syndaktylie, Brachydaktylie und hypoplastische Handwurzel- oder Mittelhandknochen gekennzeichnet ist. Die kraniofaziale Dysmorphie ist durch eine lange und breite Nase, Mikrostomie und Mikrognathie gekennzeichnet. Eine Intelligenzminderung ist, wenn vorhanden, mild ausgeprägt. Fälle mit extrem schwerem Phänotyp mit sehr kurzen Gliedmaßen und schlechter Lungenentwicklung sind perinatal letal."},"es":{"name":"Síndrome de microcefalia-talla baja-anomalías de las extremidades","synonyms":["MISSLA"],"definition":"Es un síndrome genético con anomalías congénitas múltiples poco frecuente caracterizado por microcefalia grave, retraso del crecimiento intrauterino, talla baja y anomalías variables de las extremidades, como defectos de los rayos radiales, extremidades cortas, rótula ausente/hipoplásica, sindactilia, braquidactilia e hipoplasia de los huesos del carpo o del metacarpo. La dismorfia craneofacial se caracteriza por nariz larga y ancha, microstomía y micrognatia. La discapacidad intelectual es leve cuando está presente. Los casos con fenotipo extremadamente grave con extremidades muy cortas y desarrollo pulmonar deficiente son letales en el periodo perinatal."},"it":{"name":"Sindrome da microcefalia, bassa statura e anomalie degli arti","synonyms":["MISSLA"]},"nl":{"name":"Microcefalie - kleine gestalte - ledemaatanomalieën-syndroom","synonyms":["MISSLA"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door ernstige microcefalie, intra-uteriene groeiretardatie, kleine gestalte en variabele ledemaatanomalieën zoals defecten van radius, korte ledematen, afwezige/hypoplastische patellae, syndactylie, brachydactylie, en hypoplastische handwortelbeentjes of middenhandsbeentjes. Craniofaciale dysmorfie wordt gekenmerkt door een lange en brede neus, microstomie en micrognathie. Intellectuele achterstand is mild indien aanwezig. Gevallen met een extreem ernstig fenotype met zeer korte ledematen en slechte ontwikkeling van de longen zijn perinataal letaal."},"pt":{"name":"Síndrome de microcefalia-baixa estatura-anomalias dos membros","definition":"Síndrome de anomalias congénitas múltiplas, rara e genética, caracterizada por microcefalia grave, atraso de crescimento intrauterino, baixa estatura e anomalias variáveis dos membros, como defeitos do eixo radial, membros curtos, rótulas ausentes/hipoplásicas, sindactilia, braquidactilia e ossos do carpo ou metacarpos hipoplásicos. As dismorfias craniofaciais são caracterizadas por nariz longo e largo, microstomia e micrognatia. A perturbação do desenvolvimento intelectual, quando presente, é ligeira. Casos com fenótipo extremamente grave, com membros muito curtos e hipoplasia pulmonar, são letais no período perinatal."},"pl":{"name":"Zespół małogłowia, niskiego wzrostu i wad konczyn","synonyms":["MISSLA"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, malý vzrůst a abnormality končetin","synonyms":["MISSLA"]},"uk":{"name":"Синдром мікроцефалії-аномалії росту та кінцівок","synonyms":["MISSLA"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal."},"zh":{"name":"小头畸形-身材矮小-四肢异常综合征","synonyms":["MISSLA"]},"tr":{"name":"Mikrosefali-kısa boy-ekstremite anormallikleri sendromu","synonyms":["MISSLA"]}},"xrefs":[{"source":"OMIM","code":"617604","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3811554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":572761,"name":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","classifications":[147,156,181,199]}],"children":[],"genes":[{"symbol":"DONSON","name":"DNA replication fork stabilization factor DONSON","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID]","hgnc":"2993","ensembl":"ENSG00000159147","omim":"611428","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"28191891[PMID]_31320746[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28191891[PMID]_31320746[PMID]"}],"phenotypes":null}