{"orpha":572761,"name":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572761/","orphanet_url":"https://www.orpha.net/en/disease/detail/572761","names":{"fr":{"name":"Spectre microcéphalie-petite taille-anomalies des membres associé à DONSON","definition":"Nanisme microcéphalique primordial rare à transmission autosomique récessive, caractérisé par une microcéphalie congénitale et des malformations craniofaciales associées à un spectre d'anomalies des membres dont la gravité varie de légère à sévère. Une petite taille, de forme souvent sévère, est fréquemment observée."},"de":{"name":"DONSON-assoziierte Mikrozphalie-Kleinwuchs-Extremitätenanomalien-Spektrum","definition":"Ein seltener autosomal-rezessiver mikrozephaler Kleinwuchs, der durch kongenitale Mikrozephalie und kraniofaziale Merkmale gekennzeichnet ist, die mit einem Spektrum von leichten bis schweren Gliedmaßenanomalien einhergehen. Ein Kleinwuchs wird häufig beobachtet und ist oft schwerwiegend."},"es":{"name":"Espectro de microcefalia-talla baja-anomalías de las extremidades asociado a DONSON","definition":"Es un tipo de enanismo primordial microcefálico autosómico recesivo poco frecuente caracterizado por microcefalia congénita y rasgos craneofaciales asociados a un espectro de anomalías de las extremidades que van de leves a graves. Es frecuente la talla baja, que suele ser extrema."},"it":{"name":"Spettro microcefalia-bassa statura-anomalie degli arti correlato a DONSON","definition":"Si tratta di un nanismo primordiale microcefalico raro, a trasmissione autosomica recessiva, caratterizzato da microcefalia congenita, dismorfismi craniofacciali e anomalie lievi-gravi degli arti. La bassa statura è comune e spesso è grave."},"nl":{"name":"DONSON-gerelateerd microcefalie - kleine gestalte - ledemaatanomalieën-spectrum","definition":"Een zeldzame autosomaal recessieve microcefale primordiale dwerggroei, gekenmerkt door congenitale microcefalie en craniofaciale kenmerken, geassocieerd met een spectrum van afwijkingen van ledematen gaande van mild tot ernstig. Kleine gestalte wordt vaak waargenomen en is vaak ernstig."},"pt":{"name":"Espectro clínico de microcefalia-baixa estatura-anomalias dos membros DONSON-relacionada"},"pl":{"name":"Spektrum małogłowie-niski wzrost-wady kończyn związane z DONSON"},"cs":{"name":"DONSON-vázaná mikrocefalie, malý vzrůst a spektrum abnormalit končetin"},"uk":{"name":"Мікроцефалія-низькорослість-спектр аномалій кінцівок, повязані з DONSON","definition":"A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe."},"zh":{"name":"DONSON相关的小头畸形-身材矮小-四肢异常谱系"},"tr":{"name":"DONSON-ilişkili mikrosefali-kısa boy ekstremite anormallikleri spektrumu"}},"xrefs":[{"source":"OMIM","code":"617604","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035534","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":572768,"name":"Microcephaly-micromelia syndrome","type":"Clinical subtype"},{"orpha":572773,"name":"Microcephaly-short stature-limb abnormalities syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":572773,"name":"Microcephaly-short stature-limb abnormalities syndrome"}},{"symbol":"DONSON","name":"DNA replication fork stabilization factor DONSON","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID]","hgnc":"2993","ensembl":"ENSG00000159147","omim":"611428","loci":["21q22.11"],"via":{"orpha":572768,"name":"Microcephaly-micromelia syndrome"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"31191207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}