{"orpha":2013,"name":"Cleft palate-large ears-small head syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Say-Barber-Hobbs syndrome"],"definition":"Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2013/","orphanet_url":"https://www.orpha.net/en/disease/detail/2013","names":{"fr":{"name":"Syndrome de fente palatine-grandes oreilles-petite taille","synonyms":["Syndrome de Say-Barber-Hobbs"],"definition":"Le syndrome de fente palatine-grandes oreilles-petite taille est un syndrome génétique rare caractérisé par une fente palatine, de larges oreilles décollées, une microcéphalie et une petite taille (d'apparition prénatale). Des anomalies squelettiques (retard de l'âge osseux, doigts effilés au niveau distal, phalanges distales hypoplasiques, pouces implantés au niveau proximal, clinodactylie du cinquième doigt) ont aussi été observées, ainsi qu'une séquence de Pierre Robin, une dysplasie kystique rénale, une acidose tubulaire rénale proximale, un hypospadias, des anomalies cérébrales à l'imagerie (élargissement des ventricules latéraux, légère atrophie corticale), des convulsions, une hypotonie et un retard de développement."},"de":{"name":"Gaumenspalte-große Ohren-Kleinwuchs-Syndrom","synonyms":["Say-Barber-Hobbs-Syndrom"],"definition":"Ein seltenes, genetisches Syndrom, das durch Gaumenspalte, große abstehende Ohren, Mikrozephalie und Kleinwuchs (pränatales Auftreten) gekennzeichnet ist. Weitere Skelettanomalien (verzögertes Knochenalter, distal spitz zulaufende Finger, hypoplastische distale Phalangen, proximal platzierte Daumen, Klinodaktylie des fünften Fingers), Pierre-Robin-Sequenz, zystische Nierendysplasie, proximale renale tubuläre Azidose, Hypospadie, zerebrale Anomalien in der Bildgebung (Vergrößerung der Seitenventrikel, milde kortikale Atrophie), Krampfanfälle, Hypotonie und Entwicklungsverzögerung werden ebenfalls beobachtet."},"es":{"name":"Síndrome de paladar hendido-orejas grandes-cabeza pequeña","synonyms":["Síndrome de Say-Barber-Hobbs"],"definition":"El síndrome paladar hendido-orejas grandes-cabeza pequeña es un síndrome genético poco frecuente caracterizado por paladar hendido, orejas grandes y prominentes, microcefalia y talla baja (inicio prenatal). Asimismo, se han observado otras anomalías esqueléticas (retraso de la edad ósea, dedos distalmente ahusados, falanges distales hipoplásicas, pulgares localizados de forma proximal, clinodactilia del quinto dedo), secuencia de Pierre Robin, displasia renal quística, acidosis tubular renal proximal, hipospadias, anomalías cerebrales en estudios de imagen (agrandamiento de los ventrículos laterales, atrofia cortical leve), convulsiones, hipotonía y retraso del desarrollo."},"it":{"name":"Palatoschisi - orecchie grandi - microcefalia","synonyms":["Sindrome di Say-Barber-Hobbs"],"definition":"La sindrome palatoschisi-orecchie grandi-microcefalia è una malattia genetica rara caratterizzata da palatoschisi, orecchie grandi e prominenti, microcefalia e bassa statura (ad esordio prenatale). Possono associarsi altre anomalie scheletriche (età ossea ritardata, dita assottigliate nella porzione distale, ipoplasia delle falangi distali, pollici ad impianto prossimale, clinodattilia del quinto dito), la sequenza di Pierre Robin, la displasia renale cistica, l'acidosi tubulare renale prossimale, l'ipospadia, anomalie cerebrali evidenti alle immagini diagnostiche (allargamento dei ventricoli laterali, lieve atrofia corticale), le crisi epilettiche, l'ipotonia e il ritardo dello sviluppo."},"nl":{"name":"Gespleten gehemelte - grote oren - klein hoofd-syndroom","synonyms":["Syndroom van Say-Barber-Hobbs"],"definition":"Gespleten verhemelte - grote oren - klein hoofd-syndroom is een zeldzaam, genetisch syndroom dat gekarakteriseerd wordt door een gespleten verhemelte, grote, uitstekende oren, microcefalie en een kleine gestalte (prenatale aanvang). Andere skeletale afwijkingen (vertraagde botleeftijd, spitse vingertoppen, hypoplastische distale vingerkootjes, proximaal gelokaliseerde duimen, clinodactylie van de vijfde vinger), Pierre Robin sequentie, cystische nierdysplasie, proximale renale tubulaire acidose, hypospadie, cerebrale anomalieën te zien bij beeldvorming (vergroting van de laterale ventrikels, milde corticale atrofie), insulten, hypotonie en ontwikkelingsachterstand worden ook waargenomen."},"pt":{"name":"Síndrome de fenda palatina-pavilhões auriculres grandes-microcefalia","synonyms":["Síndrome Say-Barber-Hobbs"]},"pl":{"name":"Rozszczep podniebienia - duże uszy - mała głowa","synonyms":["Zespół Say, Barber i Hobbsa"]},"cs":{"name":"Syndrom zahrnující rozštěp patra, velké uši a malou hlavu","synonyms":["Sayův-Barberův-Hobbsův syndrom","Say-Barber-Hobbsův syndrom"]},"uk":{"name":"Синдром розщілини піднебіння-великих вух-маленької голови","synonyms":["Синдром Сай-Барбера-Хоббса"],"definition":"Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed."},"zh":{"name":"腭裂-大耳-小头畸形综合征","synonyms":["Say-Barber-Hobbs 综合征"]},"tr":{"name":"Damak yarığı-büyük kulaklar-küçük kafa sendromu","synonyms":["Say-Barber-Hobbs sendromu"]}},"xrefs":[{"source":"OMIM","code":"181180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536621","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867023","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"162","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"10449654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10449654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004428","label":"Elfin facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null}]}}