{"orpha":3176,"name":"Spina bifida-hypospadias syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3176/","orphanet_url":"https://www.orpha.net/en/disease/detail/3176","names":{"fr":{"name":"Syndrome de spina bifida-hypospadias","definition":"Le syndrome de spina bifida-hypospadias est un trouble rare du développement survenant au cours de l'embryogenèse. Il se caractérise par l'association spécifique d'un hypospadias glandulaire et d'une spina bifida lombo-sacrée. Les individus affectés peuvent présenter des anomalies congénitales additionnelles, telles qu'une hydrocéphalie, une microstomie, une persistance du canal artériel, une cryptorchidie, une malrotation intestinale, des pieds convexes valgus congénitaux et une hypertrichose."},"de":{"name":"Spina bifida-Hypospadie-Syndrom","definition":"Das Spina bifida-Hypospadie-Syndrom ist eine seltene Entwicklungsstörung während der Embryogenese, die durch die spezifische Assoziation von glandulärer Hypospadie und lumbo-sakraler Spina bifida gekennzeichnet ist. Betroffene Individuen können zusätzliche kongenitale Anomalien aufweisen, wie Hydrozephalie, Mikrostomie, offener Ductus arteriosus, Kryptorchismus, intestinale Malrotation, Talus vertikalis congenitus und Hypertrichose."},"es":{"name":"Síndrome de espina bífida-hipospadias","definition":"El síndrome de espina bífida-hipospadias es un trastorno poco frecuente asociado a defectos del desarrollo durante la embriogénesis caracterizado por la asociación específica de hipospadias glandular y espina bífida lumbosacra. Las personas afectadas pueden o no presentar anomalías congénitas adicionales, tales como hidrocefalia, microstomía, ductus arterioso permeable, criptorquidia, malrotación intestinal, pies en balancín e hipertricosis."},"it":{"name":"Spina bifida - ipospadia","definition":"La spina bifida - ipospadia è un difetto raro dello sviluppo dell'embrione, caratterizzato dall'associazione tra ipospadia glandulare e spina bifida lombo-sacrale. Alcuni pazienti presentano altre anomalie congenite, come l'idrocefalo, la microstomia, la pervietà del dotto arterioso, il criptorchidismo, la malrotazione dell'intestino, i piedi ''a piccozza'' e l'ipertricosi."},"nl":{"name":"Spina bifida - hypospadie-syndroom","definition":"Spina bifida - hypospadieën-syndroom is een zeldzame aandoening met een ontwikkelingsdefect tijdens de embryogenese die wordt gekarakteriseerd door de specifieke associatie van glandulaire hypospadieën en lumbosacrale spina bifida. Getroffen individuen kunnen al dan niet bijkomende congenitale anomalieën vertonen, zoals hydrocefalie, microstomie, persisterende ductus arteriosus, cryptorchisme, intestinale malrotatie, congenitale verticale talus, en hypertrichose."},"pt":{"name":"Síndrome de espinha bífida-hipospadias"},"pl":{"name":"Rozszczep kręgosłupa - spodziectwo"},"cs":{"name":"Syndrom zahrnující spina bifida a hypospadii"},"uk":{"name":"Синдром Spina bifida-гіпоспадія","definition":"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis."},"zh":{"name":"脊柱裂-尿道下裂综合征"},"tr":{"name":"Spina bifida-hipospadias sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q05.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706660","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.1,"area":"Spain","status":"Validated","source":"7977461[PMID]_37868647[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.1,"area":"Spain","status":"Validated","source":"7977461[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Very frequent (99-80%)","criteria":null}]}}