{"orpha":592570,"name":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-592570/","orphanet_url":"https://www.orpha.net/en/disease/detail/592570","names":{"fr":{"name":"Syndrome d'anomalies cardiaques-anomalies digitales-dysmorphie faciale-retard moteur et verbal associé à TRAF7","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, caractérisé par un retard de développement global ou une régression du développement, des cardiopathies congénitales variables (à savoir&#8239;: canal artériel persistant, communication interventriculaire et interauriculaire, et ventricule droit à double sortie, entre autres), et une dysmorphie faciale (y compris, ptosis, plis épicanthaux, malformation/dysplasie des oreilles, implantation basse des cheveux ou excès de peau au niveau de la nuque, mamelons très espacés/inversés, hernie ombilicale ou diastasis recti, et anomalies digitales). Les autres manifestations variables sont une hyper- ou hypotonie, des crises convulsives, une perte d'audition, une cécité corticale et une atrophie optique. L'imagerie cérébrale peut révéler une atrophie cérébrale et cérébelleuse et une hydrocéphalie."},"de":{"name":"Herzfehler-digitale Anomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom, TRAF7-assoziiert","synonyms":["CAFDADD","Herz-, Gesichts- und Fingeranomalien mit Entwicklungsverzögerung"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine globale Entwicklungsverzögerung oder -regression, variable kongenitale Herzfehler (einschließlich offenem Ductus arteriosus, Vorhof- oder Ventrikelseptumdefekten und rechtsventrikulärer Doppelfehlbildung) und dysmorphe Merkmale (einschließlich Ptosis, Epikanthusfalten, abnorm gesetzten/dysplastischen Ohren, niedrigem Haaransatz oder übermäßiger Nackenhaut, abweichenden/invertierten Brustwarzen, Nabelbruch oder Nackenfalten) gekennzeichnet ist. Weitere variable Manifestationen sind Hyper- oder Hypotonie, Krampfanfälle, Hörverlust, kortikale Blindheit und Optikusatrophie. Die zerebrale Bildgebung kann zerebrale und zerebellare Atrophie und Hydrozephalus zeigen."},"es":{"name":"Síndrome de retraso motor y de la adquisición del habla-dismorfia facial-anomalías digitales-defecto cardíaco asociado al gen TRAF7","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas poco frecuente caracterizado por retraso o regresión global del desarrollo, defectos cardíacos congénitos variables (como conducto arterioso persistente, defectos septales auriculares o ventriculares y doble salida de ventrículo derecho, entre otros), así como rasgos dismórficos (como ptosis, epicanto, orejas anormalmente implantadas/ displásicas, línea de nacimiento del cabello baja o exceso de piel nucal, pezones muy espaciados/ invertidos, hernia umbilical o diastasis recti, y anomalías digitales). Otras manifestaciones variables son hiper- o hipotonía, crisis, hipoacusia, ceguera cortical y atrofia óptica. La neuroimagen puede mostrar atrofia cerebral y cerebelosa e hidrocefalia."},"it":{"name":"Sindrome cardiopatia-anomalie delle dita-dismorfismi facciali-ritardo motorio e del linguaggio correlata a TRAF7","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo o regressione dello sviluppo globale, cardiopatie congenite variabili (dotto arterioso pervio, difetti del setto interatriale o interventricolare, ventricolo destro a doppia uscita) e dismorfismi (ptosi, epicanto, orecchie displastiche/ad impianto anomalo, attaccatura dei capelli bassa o cute ridondante sulla nuca, capezzoli iperdistanziati/introflessi, ernia ombelicale o diastasi dei retti, e anomalie delle dita). Altri sintomi variabili sono l'iper- o ipotonia, le crisi epilettiche, l'ipoacusia, la cecità corticale e l'atrofia ottica. Le neuroimmagini possono evidenziare atrofia cerebrale e cerebellare, e idrocefalo."},"nl":{"name":"TRAF7-geassocieerd hartdefect - digitale anomalieën - faciale dysmorfie - motorische achterstand en spraakachterstand-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door algehele ontwikkelingsachterstand of -regressie, variabele congenitale hartdefecten (zoals onder meer persisterende ductus arteriosus, atrium- of ventrikelseptumdefecten, en rechterventrikel met dubbele uitstroom), en dysmorfe kenmerken (waaronder ptosis, epicanthusplooien, abnormaal geplaatste/dysplastische oren, lage haarlijn of overtollige huid in de nekregio, ver uit elkaar staande/geïnverteerde tepels, navelbreuk of rectus-diastase, en digitale anomalieën). Bijkomende variabele manifestaties zijn hyper- of hypotonie, insulten, gehoorverlies, corticale blindheid, en opticusatrofie. Beeldvorming van hersenen toont mogelijk cerebrale en cerebellaire atrofie en hydrocefalie."},"pt":{"name":"Síndrome de anomalia cardíaca-anomalias digitais-dismorfia facial-perturbação do desenvolvimento motor e da linguagem TRAF7-relacionada","definition":"Anomalia congénita/síndrome dismórfica rara caracterizada por atraso global de desenvolvimento ou regressão, defeitos cardíacos congénitos variáveis &#8203;&#8203;(por exemplo persistência do canal arterial, defeitos do septo atrial ou ventricular e dupla saída do ventrículo direito, entre outros) e características dismórficas (incluindo ptose, epicantus, orelhas displásicas/inserção anómala, implantação baixa do couro cabeludo ou pele nucal em excesso, mamilos espaçados/invertidos, hérnia umbilical ou diástase do reto e anomalias digitais). As manifestações &#8203;&#8203;adicionais, em grau variável, incluem hiper ou hipotonia, convulsões, perda auditiva, cegueira cortical e atrofia óptica. A imagiologia cerebral pode evidenciar atrofia cerebral e cerebelar e hidrocefalia."},"pl":{"name":"Zespół zaburzeń związanych z TRAF7"},"cs":{"name":"Syndrom související s TRAF7, zahrnující srdeční vadu, anomálie prstů, faciální dysmorfii a opoždění motoriky a řeči"},"uk":{"name":"TRAF7-асоційований синдром вади серця-аномалії пальців-лицевого дизморфізму- затримки моторного та мовленнєвого розвитку","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus."},"zh":{"name":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"},"tr":{"name":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"}},"xrefs":[{"source":"OMIM","code":"618164","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681633","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":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[],"genes":[{"symbol":"TRAF7","name":"TNF receptor associated factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29961569[PMID]","hgnc":"20456","ensembl":"ENSG00000131653","omim":"606692","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"29961569[PMID]_32376980[PMID]_32459067[PMID]_34088006[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}