{"orpha":313892,"name":"Developmental and speech delay due to SOX5 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313892/","orphanet_url":"https://www.orpha.net/en/disease/detail/313892","names":{"fr":{"name":"Retard de développement et de langage par déficit en SOX5","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de développement global léger à sévère, une déficience intellectuelle et des troubles comportementaux, une hypotonie, un strabisme, une hypoplasie du nerf optique et une légère dysmorphie faciale (fentes palpébrales inclinées vers le bas, front proéminent, encombrement dentaire, anomalies auriculaires et crêtes philtrales proéminentes). D'autres caractéristiques cliniques associées peuvent inclure des crises d'épilepsie et des anomalies squelettiques (cyphose/scoliose, déformations du thorax)."},"de":{"name":"Entwicklungs- und Sprachverzögerung durch SOX5-Mangel"},"es":{"name":"Retraso del desarrollo y del lenguaje por deficiencia de SOX5","definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por retraso global del desarrollo de leve a grave, discapacidad intelectual y anomalías conductuales, hipotonía, estrabismo, hipoplasia del nervio óptico y leves características dismórficas faciales (fisuras palpebrales inclinadas hacia abajo, frente prominente, superposición dentaria, anomalías auriculares y crestas del filtrum prominentes). Otras características clínicas pueden incluir crisis epilépticas y anomalías esqueléticas (cifosis/escoliosis, malformaciones pectorales)."},"it":{"name":"Ritardo dello sviluppo e del linguaggio da deficit di SOX5","definition":"Il ritardo dello sviluppo e del linguaggio da deficit di SOX5 è una disabilità intellettiva sindromica genetica rara, caratterizzata da ritardo dello sviluppo globale lieve-grave, disabilità intellettiva, anomalie del comportamento, ipotonia, strabismo, ipoplasia del nervo ottico e dismorfismi facciali sfumati (rime palpebrali oblique verso il basso, fronte bombata, denti affastellati, anomalie delle orecchie e prominenza delle colonne del filtro). Altri segni clinici sono le crisi epilettiche e le anomalie scheletriche (cifosi/scoliosi, deformità del torace)."},"nl":{"name":"Ontwikkelings- en spraakachterstand door SOX5-deficiëntie","definition":"Ontwikkelings- en spraakachterstand door SOX5-deficiëntie is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door milde tot ernstige algehele ontwikkelingsachterstand, intellectuele achterstand en gedragsafwijkingen, hypotonie, strabisme, hypoplasie van de oogzenuw en milde faciale dysmorfe kenmerken (schuin naar beneden hellende ooglidspleten, boller voorhoofd, overlappende tanden, ooranomalieën en filtrum met prominente randen). Andere klinische kenmerken die kunnen geassocieerd zijn, zijn onder meer insulten en skeletanomalieën (kyfose/scoliose, pectus misvormingen)."},"pt":{"name":"Perturbação do desenvolvimento e da linguagem devido à deficiência SOX5"},"pl":{"name":"Opóźnienie rozwoju i mowy z powodu niedoboru SOX5","definition":"*Opóźnienie rozwoju i mowy z powodu niedoboru SOX5 jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, w którym występują łagodne lub znaczne całościowe opóźnienie rozwoju, niepełnosprawność intelektualna i zaburzenia zachowania, hipotonia, zez, hipoplazja nerwu wzrokowego i łagodna dysmorfią twarzy (skośnie ku dołowi skierowane szpary powiekowe, wydatne czoło, stłoczone zęby, nieprawidłowości uszu i wydatne brzegi/krawędzie rynienki podnosowej). Inne towarzyszące objawy kliniczne to drgawki i nieprawidłowości układu szkieletowego (kifoza/skolioza, deformacje klatki piersiowej)."},"cs":{"name":"Opoždění vývoje a řeči způsobené SOX5 deficitem"},"uk":{"name":"Затримка розвитку та мовлення, зумовлена дефіцитом SOX5","definition":"Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)."},"zh":{"name":"SOX5基因所致发育和言语迟滞","definition":"SOX5缺乏导致的发育和语言发育迟缓是一种罕见的遗传综合征性智力障碍，其特征为轻至重度整体发育迟缓、智力障碍和行为异常、肌张力减退、斜视、视神经发育不良和轻度面部畸形特征（睑裂下、额叶肥大、牙齿拥挤、耳廓异常和腓肠嵴突出）。其他相关的临床特征可能包括癫痫发作和骨骼异常（后凸/脊柱侧凸、胸廓畸形）。"},"tr":{"name":"SOX5 eksikliğine bağlı gelişim ve konuşma gecikmesi"}},"xrefs":[{"source":"OMIM","code":"616803","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749915","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":530983,"name":"Lamb-Shaffer syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SOX5","name":"SRY-box transcription factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22290657[PMID]","hgnc":"11201","ensembl":"ENSG00000134532","omim":"604975","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"26111154[PMID]_29477873[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29477873[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-16","source":"22290657[PMID]_26111154[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002711","label":"Exaggerated median tongue furrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005659","label":"Thoracic kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null}]}}