{"orpha":3121,"name":"Ruvalcaba syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3121/","orphanet_url":"https://www.orpha.net/en/disease/detail/3121","names":{"fr":{"name":"Syndrome de Ruvalcaba","definition":"Le syndrome de Ruvalcaba est un syndrome malformatif extrêmement rare décrit chez moins de 10 patients jusqu'à présent. Il est caractérisé par une microcéphalie accompagnée par d'une dysmorphie faciale (fentes palpébrales obliques en bas et en dehors, nez en crochet, microstomie, mâchoire étroite), une très petite taille, un rétrécissement de la cage thoracique avec un pectus carinatum, des organes génitaux hypoplasiques, des anomalies squelettiques (i.e. brachydactylie et ostéochondrite de la colonne vertébrale), ainsi qu'un retard de développement et intellectuel."},"de":{"name":"Ruvalcaba-Syndrom","synonyms":["Hunter-Mcalpine-Syndrom"]},"es":{"name":"Síndrome de Ruvalcaba","definition":"Es un síndrome malformativo muy poco frecuente descrito en menos de 10 pacientes hasta la fecha. Está caracterizado por microcefalia con una facies característica (fisuras palpebrales inclinadas hacia abajo, microstomia, nariz picuda, maxilar estrecho), talla muy baja, caja torácica estrecha con <i>pectus carinatum</i>, genitales hipoplásicos y anomalías esqueléticas (braquidactilia característica y osteocondritis de la columna vertebral), así como retraso psicomotor y discapacidad intelectual."},"it":{"name":"Sindrome di Ruvalcaba","definition":"La sindrome di Ruvalcaba è una malattia malformativa molto rara, descritta in meno di 10 pazienti. È caratterizzata da microcefalia con facies caratteristica (rime palpebrali oblique verso il basso, microstomia, naso ''a becco'', mascella stretta), statura molto bassa, torace stretto con pectus carinatum, ipoplasia dei genitali e anomalie scheletriche (peculiare brachidattilia e osteocondrite della colonna vertebrale), ritardo mentale e dello sviluppo."},"nl":{"name":"Syndroom van Ruvalcaba","definition":"Syndroom van Ruvalcaba is een uiterst zeldzaam malformatiesyndroom, dat tot op heden in minder dan 10 patiënten werd beschreven, en dat gekarakteriseerd wordt door microcefalie met kenmerkend gelaat (schuin naar beneden hellende ooglidspleten, microstomie, snavelvormige neus, smal bovenkaakbeen), zeer kleine gestalte, smalle borstkas met pectus carinatum, hypoplastische genitaliën en skeletanomalieën (i.e. typische brachydactylie en osteochondritis van de wervelkolom) alsook intellectuele achterstand en ontwikkelingsachterstand."},"pt":{"name":"Síndrome Ruvalcaba"},"pl":{"name":"Zespół Ruvalcaba"},"cs":{"name":"Ruvalcabaův syndrom"},"uk":{"name":"Синдром Рувалькаби","definition":"Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay."},"zh":{"name":"Ruvalcaba综合征"},"tr":{"name":"Ruvalcaba sendromu"}},"xrefs":[{"source":"OMIM","code":"180870","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008395","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265248","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4748","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":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","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:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100734","label":"Abnormality of vertebral epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}