{"orpha":1548,"name":"Cryptorchidism-arachnodactyly-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Van Benthem-Driessen-Hanveld syndrome"],"definition":"Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1548/","orphanet_url":"https://www.orpha.net/en/disease/detail/1548","names":{"fr":{"name":"Syndrome de cryptorchidie-arachnodactylie-déficience intellectuelle","synonyms":["Syndrome de Van Benthem-Driessen-Hanveld"],"definition":"Un syndrome rare d'anomalies congénitales multiples caractérisé par un retard psychomoteur, un déficit intellectuel sévère, une hypoplasie musculaire sévère (avec absence de tissu graisseux sous-cutané), des contractures généralisées, une dysmorphie craniofaciale (dolichocéphalie, ésotropie, oreilles de taille inégale, palais haut), des déformations thoraciques et vertébrales (sternum tourné vers le côté, cyphoscoliose), des anomalies pulmonaires (système bronchique hypoplasique unilatéral), une arachnodactylie et des anomalies génitales (cryptorchidie, hypospadias, agénésie testiculaire). Des infections récurrentes des voies respiratoires et une atélectasie sont aussi associées. Il n'y a pas eu de description ultérieure dans la littérature depuis 1970."},"de":{"name":"Kryptorchismus-Arachnodaktylie-Intelligenzminderung-Syndrom","synonyms":["Van Benthem-Driessen-Hanveld-Syndrom"],"definition":"Ein seltenes, kongenitales Syndrom mit multiplen Anomalien, das durch psychomotorische Verzögerung, schweres intellektuelles Defizit, schwere Muskelhypoplasie (mit Fehlen von subkutanem Fettgewebe), generalisierte Kontrakturen, kraniofaziale Dysmorphien (Dolichozephalie, Esotropie, ungleich große Ohren, hoher Gaumen), Brustkorb- und Wirbelsäulendeformitäten (z. B. seitlich verschobenes Sternum, Kyphoskoliose), pulmonale Anomalien (einseitig hypoplastisches Bronchialsystem), und Genitalanomalien (Kryptorchismus, Hypospadie, Hodenagenesie) gekennzeichnet ist. Wiederholte Atemwegsinfektionen und Atelektase sind ebenfalls assoziiert. Seit 1970 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de criptorquidia-aracnodactilia-discapacidad intelectual","synonyms":["Síndrome de Van Benthem-Driessen-Hanveld"],"definition":"El síndrome criptorquidia-aracnodactilia-discapacidad intelectual, es un síndrome de anomalías congénitas múltiples, poco frecuente, caracterizado por retraso psicomotor, déficit intelectual grave, hipoplasia muscular grave (con ausencia de tejido adiposo subcutáneo), contracturas generalizadas, rasgos craneofaciales dismórficos (dolicocefalia, esotropia, orejas de tamaño desigual, paladar ojival), malformaciones torácicas y de columna vertebral (por ejemplo esternón desplazado hacia un lado, cifoescoliosis), anomalías pulmonares (sistema bronquial hipoplásico unilateral), aracnodactilia y anomalías genitales (criptorquidia, hipospadias, agenesia testicular). También se asocian infecciones recurrentes del tracto respiratorio y atelectasias. No ha habido más descripciones en la literatura desde 1970."},"it":{"name":"Sindrome da criptorchidismo - aracnodattilia - disabilità intellettiva","synonyms":["Sindrome di Van Benthem-Driessen-Hanveld"],"definition":"La sindrome che associa criptorchidismo, aracnodattilia e disabilità intellettiva è una malattia rara da anomalie congenite multiple, caratterizzata da ritardo psicomotorio, grave deficit intellettivo, marcata ipoplasia muscolare (è assente il tessuto adiposo sottocutaneo), contratture generalizzate, dismorfismi craniofacciali (dolicocefalia, esotropia, orecchie asimmetriche, palato ogivale), deformità del torace e della colonna vertebrale (sterno deviato lateralmente, cifoscoliosi), anomalie polmonari (ipoplasia del sistema bronchiale monolaterale), aracnodattilia e anomalie dei genitali (criptorchidismo, ipospadia, agenesia dei testicoli). Si associano infezioni ricorrenti delle vie respiratorie ed atelettasia. Non sono stati descritti nuovi casi dopo il 1970."},"nl":{"name":"Cryptorchidie - arachnodactylie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Van Benthem-Driessen-Hanveld"],"definition":"Cryptorchidie - arachnodactylie - intellectuele achterstand-syndroom is een zeldzaam syndroom met multipele congenitale anomalieën, en wordt gekarakteriseerd door psychomotorische achterstand, ernstige intellectuele beperking, ernstige hypoplasie van de spieren(met afwezigheid van subcutaan vetweefsel), gegeneraliseerde contracturen, craniofaciale dysmorfie (dolichocefalie, esotropie, oren met ongelijke afmetingen, hoog verhemelte), misvormingen van borst en ruggenmerg (i.e. sternum (borstbeen) opzij verschoven, kyfoscoliose), pulmonale anomalieën (unilateraal hypoplastisch bronchiaal systeem), arachnodactylie, en genitale afwijkingen (cryptorchidie, hypospadieën, testiculaire agenesie). Herhaaldelijke infecties van de luchtwegen en atelectase zijn ook geassocieerd. Sinds 1970 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de criptorquidia-aracnodactilia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Van Bentham-Driessen-Hanveld"]},"pl":{"name":"Wnętrostwo - arachnodaktylia - niepełnosprawność intelektualna","synonyms":["Zespół Van Benthem, Driessena i Hanvelda"]},"cs":{"name":"Syndrom zahrnující kryptorchismus, arachnodaktylii a mentální retardaci","synonyms":["Van Benthemův-Driessenův-Haneveldův syndrom","Van Benthem-Driessen-Haneveldův syndrom"]},"uk":{"name":"Синдром крипторхізму-арахнодактилії-інтелектуальної недостатності","synonyms":["Синдром Ван Бентема-Дріссена-Ганвельда"],"definition":"Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970."},"zh":{"name":"隐睾-蜘蛛指-智力障碍综合征","synonyms":["Van Benthem-Driessen-Hanveld综合征"]},"tr":{"name":"Kriptorşidi-araknodaktili-zihinsel yetersizlik sendromu","synonyms":["Van Benthem-Driessen-Hanveld sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"860","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4394203[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4394203[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null}]}}