{"orpha":1786,"name":"Acrofacial dysostosis, Catania type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Opitz-Caltabiano syndrome"],"definition":"A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1786/","orphanet_url":"https://www.orpha.net/en/disease/detail/1786","names":{"fr":{"name":"Dysostose acrofaciale type Catane","synonyms":["Syndrome d'Opitz-Caltabiano"],"definition":"Dysostose acrofaciale congénitale rare caractérisée par un léger retard de croissance intra-utérin, une petite taille à la naissance, une microcéphalie, une déficience intellectuelle, une dysostose mandibulofaciale modérée (y compris des anomalies et/ou des malpositions dentaires, une microrétrognathie et une hypoplasie malaire) et une légère hypoplasie pré- et postaxiale des membres avec brachydactylie généralisée, une légère syndactylie membraneuse, des plis palmaires transversaux uniques et une clinodactylie. Les caractéristiques faciales rapportées comprennent un front haut, une implantation des cheveux en V, des fentes palpébrales inclinées vers le bas, des sourcils clairsemés sur les côtés et des oreilles petites ou dysplasiques. Les autres caractéristiques associées sont variables, à savoir caries fréquentes, fistules préauriculaires, hernies inguinales, spina bifida occulta, cryptorchidie et hypospadias chez les garçons."},"de":{"name":"Dysostose, akrofaziale, Catania-Typ","synonyms":["Opitz-Mollica-Sorge-Syndrom"],"definition":"Eine seltene kongenitale akrofaziale Dysostose, die durch eine leichte intrauterine Wachstumsretardierung, postnatalen Kleinwuchs, Mikrozephalie, Intelligenzminderung, eine mäßige mandibulofaziale Dysostose (einschließlich Zahnanomalien und/oder -fehlstellungen, Mikroretrognathie und Malarhypoplasie) und eine leichte prä- und postaxiale Gliedmaßenhypoplasie mit generalisierter Brachydaktylie, leichten interdigitalen Schwimmhäuten, einzelnen transversalen Palmarfalten und Klinodaktylie gekennzeichnet ist. Zu den berichteten Gesichtsmerkmalen gehören eine hohe Stirn, spitzer Haaransatz, schräg abwärts verlaufende Lidspalten, spärliche seitliche Augenbrauen und kleine oder dysplastische Ohren. Zu den variablen Begleitmerkmalen gehören häufige Karies, präaurikuläre Fisteln, Leistenbrüche, Spina bifida occulta sowie Kryptorchismus und Hypospadie bei Männern."},"es":{"name":"Disostosis acrofacial tipo Catania","synonyms":["Síndrome de Opitz-Mollica-Sorge"],"definition":"Es una disostosis acrofacial congénita poco frecuente caracterizada por un leve retraso del crecimiento intrauterino, talla baja postnatal, microcefalia, discapacidad intelectual, disostosis mandibulofacial moderada (que incluye anomalías dentales y/o malposición, microretrognacia e hipoplasia malar), e hipoplasia leve de las extremidades pre- y postaxial con braquidactilia generalizada, discreta membrana interdigital, pliegues palmares transversales únicos y clinodactilia. Los rasgos faciales descritos incluyen frente alta, pico de viuda, fisuras palpebrales inclinadas hacia abajo, cejas laterales escasas y orejas pequeñas o displásicas. Entre los rasgos asociados a la enfermedad se encuentran caries frecuentes, fístulas preauriculares, hernia inguinal, espina bífida oculta y criptorquidia e hipospadias en los varones."},"it":{"name":"Disostosi acrofacciale, tipo Catania","synonyms":["Sindrome di Opitz-Mollica-Sorge"],"definition":"La disostosi acro facciale, tipo Catania, è una disostosi acrofacciale molto rara, caratterizzata da lieve ritardo della crescita intrauterina, bassa statura postnatale, microcefalia, capelli con aspetto a V, disostosi mandibolo-facciale senza palatoschisi, carie, lieve ipoplasia preassiale e postassiale degli arti con brachidattilia, lieve aumento delle pliche interdigitali, linea delle quattro dita, ernia inguinale; criptorchidismo e ipospadia nei maschi."},"nl":{"name":"Acrofaciale dysostose, Catania-type","synonyms":["Syndroom van Opitz-Caltabiano"],"definition":"Een zeldzame congenitale acrofaciale dysostose, gekarakteriseerd door milde intra-uteriene groeiretardatie, postnatale kleine gestalte, microcefalie, intellectuele achterstand, matige mandibulofaciale dysostose (met dentale anomalieën en/of malpositie, microretrognathie, en hypoplasie van jukbeenderen), en milde pre- en postaxiale hypoplasie van ledematen met gegeneraliseerde brachydactylie, milde syndactylie van vingers, enkelvoudige transversale handlijn op de handpalm, en clinodactylie. Gerapporteerde gelaatskenmerken zijn onder meer hoog voorhoofd, V-vormige voorste haargrens, schuin naar beneden hellende ooglidspleten, schaarse laterale wenkbrauwen, en kleine of dysplastische oren. Variabel geassocieerde kenmerken zijn onder meer frequent tandbederf, preauriculaire fistels, hernia inguinalis (liesbreuk), spina bifida occulta, en cryptorchisme en hypospadie bij mannen."},"pt":{"name":"Disostose acrofacial, tipo Catania","synonyms":["Síndrome Opitz-Mollica-Sorge"]},"pl":{"name":"Dyzostoza kończynowo-twarzowa typu Catania","synonyms":["Zespół Opitza i Caltabiano"]},"cs":{"name":"Akrofaciální dysostóza, katánský typ","synonyms":["Opitzův-Caltabianův syndrom","Opitz-Caltabianův syndrom"]},"uk":{"name":"Акрофаціальний дизостоз, тип Катанія","synonyms":["Синдром Опітца-Кальтабіано"],"definition":"A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males."},"zh":{"name":"肢端-面骨发育不全，Catania型","synonyms":["Opitz-Caltabiano综合征"]},"tr":{"name":"Akrofasiyal disostoz, Katanya tipi","synonyms":["Opitz-Caltabiano sendromu"]}},"xrefs":[{"source":"OMIM","code":"101805","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"750680130"},{"source":"MONDO","code":"0007045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538182","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"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":["Autosomal dominant","X-linked dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8826434[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8826434[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","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:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}