{"orpha":85442,"name":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85442/","orphanet_url":"https://www.orpha.net/en/disease/detail/85442","names":{"fr":{"name":"Syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale","definition":"Le syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale est caractérisé par une petite taille, un déficit hormonal de l'antéhypophyse, une petite selle turcique et une hypoplasie de l'antéhypophyse associée à une anomalie des amygdales cérébelleuses. Il a été décrit dans trois générations d'une grande famille française. Une ectopie de l'hypophyse postérieure a été observée chez certains patients. Ce syndrome se transmet sur le mode dominant et est dû à une mutation germinale du gène codant le facteur de transcription LIM-homeobox (<I>LHX4</I> en 1q25)."},"de":{"name":"Kleinwuchs-Hypophysen- und zerebelläre Defekte-kleine Sella turcica-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Kleinwuchs, Hypophysenvorderlappen-Insuffizienz, kleine Sella turcica, Hypoplasie des vorderen Anteils der Hypophyse und abnorme Kleinhirntonsillen."},"es":{"name":"Síndrome de talla baja-defectos en el cerebelo e hipófisis-silla turca pequeña","definition":"Es un síndrome caracterizado por talla baja, deficiencia de la hormona pituitaria anterior, silla turca pequeña y una hipófisis anterior hipoplásica asociada con amígdalas cerebelosas de configuración puntiaguda. Se ha descrito en tres generaciones de una familia francesa numerosa. En algunos pacientes se observó ectopia de la hipófisis posterior. El síndrome se transmite como un rasgo dominante y está causado por una mutación de la línea germinal en el gen <i>LHX4</i> del factor de transcripción LIM-homeobox (1q25)."},"it":{"name":"Bassa statura - anomalie dell'ipofisi e del cervelletto - sella turcica piccola"},"nl":{"name":"Kleine gestalte - hypofysaire en cerebellaire defecten - kleine sella turcica-syndroom","definition":"Een syndroom, gekenmerkt door kleine gestalte, deficiëntie van hormoon van adenohypofyse, kleine sella turcica (Turks zadel), en hypoplastische adenohypofyse geassocieerd met puntige cerebellaire tonsillen. Het werd beschreven bij drie generaties van een grote Franse familie. Bij sommige patiënten werd ectopie van posterieure hypofyse geobserveerd. Het syndroom wordt overgedragen als een dominant erfelijk kenmerk, en veroorzaakt door een kiembaanmutatie in het gen <i>LHX4</i> (1q25), dat codeert voor LIM-homeobox transcriptiefactor."},"pt":{"name":"Síndrome de baixa estatura-defeitos da pituitária e do cerebelo-sela turca pequena"},"pl":{"name":"Niski wzrost - wady możdżku i przysadki - małe siodło tureckie"},"cs":{"name":"Syndrom zahrnující malý vzrůst, vady hypofýzy a mozečku a malé sella turcica"},"uk":{"name":"Синдром низькорослості-дефектів гіпофіза та мозочка-малого турецького сідла","definition":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25)."},"zh":{"name":"身材矮小-垂体和小脑缺陷-小蝶鞍综合征"},"tr":{"name":"Kısa boy-hipofiz ve serebellar defektler-küçük sella tursika sendromu"}},"xrefs":[{"source":"OMIM","code":"262700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303613","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10604","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"LHX4","name":"LIM homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11567216[PMID]","hgnc":"21734","ensembl":"ENSG00000121454","omim":"602146","loci":["1q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11567216[PMID]_17527005[PMID]_18073311[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11567216[PMID]_17527005[PMID]_18073311[PMID]"}],"phenotypes":null}