{"orpha":163971,"name":"X-linked intellectual disability, Cilliers type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability-microcephaly-testicular failure syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypergonadotropic hypogonadism associated with small and abnormal testes, microcephaly, small hands and nails, fifth finger clinodactyly, mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, high nasal bridge, large ears), and mild learning difficulties.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163971/","orphanet_url":"https://www.orpha.net/en/disease/detail/163971","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Cilliers","synonyms":["Syndrome de déficience intellectuelle liée à l'X-microcéphalie-insuffisance testiculaire"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une petite taille, un hypogonadisme hypergonadotrope associé à des testicules anormaux, de petite taille, une microcéphalie, des mains et des ongles de petite taille, une clinodactylie du 5<sup>e</sup> doigt, une légère dysmorphie faciale (yeux profondément situés dans les orbites, rebords supra-orbitaux proéminents, racine nasale saillante et oreilles larges) et de légères difficultés d'apprentissage."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Cilliers","synonyms":["Syndrom der X-chromosomalen Intelligenzminderung mit Mikrozephalie und Hodenversagen"],"definition":"Der Typ Cilliers der X-chromosomalen Intelligenzminderung ist gekennzeichnet durch leichtes intellektuelles Defizit, Kleinwuchs, hypergonadotropen Hypogonadismus, Mikrozephalie und leichte faziale Dysmorphien (tiefliegende Augen, prominente supraorbitale Leisten, hoher Nasenrücken, große Ohren)."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Cilliers","synonyms":["Síndrome de discapacidad intelectual-microcefalia-insuficiencia testicular ligado al cromosoma X"],"definition":"El déficit intelectual ligado al cromosoma X tipo Cilliers está caracterizado por déficit intelectual leve, asociado a talla baja, hipogonadismo hipergonadotrópico, microcefalia y dismorfía facial leve (ojos hundidos, crestas supraorbitales prominentes, puente nasal alto y pabellones auriculares grandes)."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Cilliers","synonyms":["Sindrome disabilità intellettiva-microcefalia-insufficienza testicolare legata all'X"],"definition":"Il ritardo mentale legato all'X, tipo Cilliers, è caratterizzato da lieve ritardo mentale associato a bassa statura, ipogonadismo ipergonadotropo, microcefalia e lievi dismorfismi facciali (occhi infossati, creste sopraorbitali prominenti, sella nasale alta, padiglioni auricolari ampi)."},"nl":{"name":"X-gebonden intellectuele achterstand, Cilliers-type","synonyms":["X-gebonden intellectuele achterstand - microcefalie - testiculair falen-syndroom"],"definition":"Een syndroom, gekenmerkt door milde intellectuele achterstand geassocieerd met kleine gestalte, hypergonadotroop hypogonadisme, microcefalie, en milde faciale dysmorfie (diepliggende ogen, prominente supraorbitale randen, hoge neusbrug, en grote oren)."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Cilliers","synonyms":["Síndrome de perturbação do desenvolvimento intelectual ligada ao X-microcefalia-falência testicular"],"definition":"O atraso mental, ligado ao X, tipo Cilliers é caracterizado por atraso mental ligeiro associado a baixa estatura, hipogonadismo hipergonadotrópico, microcefalia e dismorfismo facial ligeiro (olhos profundos, arcadas superciliares proeminentes, ponte nasal alta e orelhas grandes)."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Cilliersa","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X - małogłowie - niewydolność jąder"]},"cs":{"name":"X-vázaná mentální retardace, Cilliersové typ","synonyms":["Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii a testikulární selhání"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Cilliers","synonyms":["Х-зчеплена розумова відсталість-мікроцефалія-тестикулярна недостатність"],"definition":"A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)."},"zh":{"name":"Cilliers 型X连锁智力障碍","synonyms":["X连锁智力障碍-小头畸形-睾丸衰竭综合征"],"definition":"X连锁智力缺陷Cilliers型的特征是轻度智力缺陷伴身材矮小，高促性腺激素性性腺功能减退，小头畸形和轻度面部畸形(眼深凹，眶上嵴突出，高鼻梁和大耳朵)。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Cilliers tipi","synonyms":["X'e bağlı zihinsel yetersizlik-mikrosefali-testis yetmezliği sendromu"]}},"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":"0015600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305024","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]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17369115[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17369115[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-13","source":"17369115[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100962","label":"Shyness","frequency":"Occasional (29-5%)","criteria":null}]}}