{"orpha":530983,"name":"Lamb-Shaffer syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SOX5 haploinsufficiency syndrome"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-530983/","orphanet_url":"https://www.orpha.net/en/disease/detail/530983","names":{"fr":{"name":"Syndrome de Lamb-Shaffer","synonyms":["Syndrome par haploinsuffisance de SOX5"],"definition":"Syndrome génétique rare avec déficience intellectuelle caractérisé par un retard du développement initial, des éléments morphologiques (comme des bosses frontales, un épicanthus, un strabisme, une racine du nez déprimée, un philtrum court, des anomalies des oreilles, une micrognatie, des dents malposées, etc.). Peuvent s'y ajouter des troubles du comportement (stéréotypies, agitation, anxiété, trouble du spectre autistique), des anomalies squelettiques (scoliose, clinodactylies, pectus carinatum, etc.) et des phénomènes épileptiques."},"de":{"name":"Lamb-Shaffer-Syndrom","synonyms":["SOX5 Haploinsuffizienz-Syndrom"],"definition":"Eine syndromale Form der Intelligenzminderung, die durch eine globale Entwicklungsverzögerung und Sprachverzögerung, unterschiedliche Grade der Intelligenzminderung und Gesichtsdysmorphien (wie Balkonstirn, Epikanthusfalten, Strabismus, vertiefter Nasenrücken, kurzes Philtrum, Anomalien der Ohrmuscheln, Mikrognathie oder Engstand der Zähne u. a.) gekennzeichnet ist. Darüber hinaus werden Verhaltensprobleme (Stereotypien, Aggression, Angstzustände, Autismus-Spektrum-Störung), Skelettanomalien (Skoliose, Pectus carinatum, Klinodaktylie der Finger und Zehen u. a.) und Krampfanfälle berichtet."},"es":{"name":"Síndrome de Lamb-Shaffer","synonyms":["Síndrome de haploinsuficiencia de SOX5"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por un retraso global del desarrollo y del habla, grados variables de discapacidad intelectual y rasgos faciales dismórficos (como protuberancia frontal, pliegues epicánticos, estrabismo, puente nasal deprimido, filtrum corto, anomalías del pabellón auricular, micrognatia o apiñamiento dental, entre otros). Otras manifestaciones descritas incluyen los trastornos de conducta (estereotipias, agresividad, ansiedad, trastorno del espectro autista), anomalías esqueléticas (escoliosis, tórax en quilla, clinodactilia de los dedos de las manos y de los pies, entre otras) y crisis epilépticas."},"it":{"name":"Sindrome di Lamb-Shaffer","definition":"La sindrome di Lamb-Shaffer (LAMSHF) è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo dello sviluppo globale e del linguaggio, disabilità intellettiva di grado variabile e dismorfismi facciali (fronte bombata, epicanto, strabismo, sella nasale infossata, filtro corto, anomalie delle orecchie, micrognazia, denti affastellati). I pazienti possono presentare anche anomalie comportamentali (stereotipie, aggressività, ansia, disturbi dello spettro autistico), anomalie scheletriche (scoliosi, pectus carinatum, clinodattilia delle mani e dei piedi) e crisi epilettiche."},"nl":{"name":"Syndroom van Lamb-Shaffer","synonyms":["Syndroom door SOX5-haploinsufficiëntie"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door algehele ontwikkelingsachterstand en spraakachterstand, variabele gradaties van intellectuele achterstand, en dysmorfe gelaatskenmerken (zoals onder meer boller voorhoofd, epicanthusplooien, strabisme, ingezakte neusbrug, kort filtrum, oorafwijkingen, micrognathie, of ruimtegebrek van tanden). Bijkomend gerapporteerde manifestaties zijn gedragsproblemen (stereotiepe bewegingen, agressie, angst, autismespectrumstoornis), skeletanomalieën (waaronder scoliose, pectus carinatum of kippenborst, clinodactylie van vingers en tenen), en insulten."},"pt":{"name":"Síndrome Lamb-Shaffer"},"pl":{"name":"Zespół Lamba i Shaffer","synonyms":["Zespół haploinsuficjencji SOX5"]},"cs":{"name":"Lambův-Shafferové syndrom","synonyms":["Syndrom haploinsuficience SOX5","Lamb-Shafferové syndrom"]},"uk":{"name":"Синдром Ламба-Шаффера","synonyms":["Синдром гаплонедостатності SOX5"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures."},"zh":{"name":"Lamb - Shaffer综合征","synonyms":["SOX5单倍剂量不足"]},"tr":{"name":"Lamb-Shaffer sendromu","synonyms":["SOX5 haployetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"616803","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225202","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":313884,"name":"12p12.1 microdeletion syndrome","type":"Clinical subtype"},{"orpha":313892,"name":"Developmental and speech delay due to SOX5 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":313892,"name":"Developmental and speech delay due to SOX5 deficiency"}},{"symbol":"SOX5","name":"SRY-box transcription factor 5","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22290657[PMID]","hgnc":"11201","ensembl":"ENSG00000134532","omim":"604975","loci":["12p12.1"],"via":{"orpha":313884,"name":"12p12.1 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"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":"2020-08-17","source":"29477873[PMID]_31578471[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040195","label":"Decreased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","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:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Very rare (<4-1%)","criteria":null}]}}