{"orpha":85325,"name":"X-linked intellectual disability, Stevenson type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85325/","orphanet_url":"https://www.orpha.net/en/disease/detail/85325","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Stevenson","definition":"Déficience intellectuelle liée à l'X type Stevenson se caractérise par une déficience intellectuelle, une hypotonie, des réflexes tendineux profonds absent, des doigts fusiformes et des empreintes digitales anormales, un <i>genu valgum</i> , un visage caractéristique et des petites dents. Il a été décrit chez quatre garçons issus de deux générations d'une même famille. Le gène responsable de ce syndrome serait situé dans la région q13 du chromosome X."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Stevenson","definition":"Dieses Syndrom ist gekennzeichnet durch Intelligenzminderung, Muskelhypotonie, fehlende tiefe Sehnenreflexe, konisch zu laufende Finger, gehäufte Bogenmuster auf den Fingerkuppen, Genu valgum, charakteristisches Gesicht und kleine Zähne."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Stevenson","definition":"Es un trastorno caracterizado por déficit intelectual, hipotonía, ausencia de reflejos tendinosos profundos, dedos ahusados y arcos dactilares pronunciados, genu valgum, facies característica y dientes pequeños. Se ha descrito en cuatro varones de dos generaciones de una misma familia. El gen causal parece estar ubicado en la región q13 del cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Stevenson"},"nl":{"name":"X-gebonden intellectuele achterstand, Stevenson-type","definition":"Een aandoening, gekenmerkt door intellectuele achterstand, hypotonie, afwezige diepe peesreflexen, spitse vingers en overmatige vingerafdrukbogen, genu valgum, kenmerkend gelaat, en kleine tanden. Het werd beschreven bij vier mannen uit twee generaties van één familie. Het causale gen lijkt gesitueerd te zijn in de regio q13 op het X-chromosoom."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Stevenson"},"pl":{"name":"Niepełnosprawność intelektualna typu Stevensona sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Stevensonův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Стівенсона","definition":"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome."},"zh":{"name":"X连锁智力障碍，Stevenson型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Stevenson tipi"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019422","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305077","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"9192265[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9192265[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9192265[PMID]","terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null}]}}