{"orpha":75389,"name":"Brain malformation-congenital heart disease-postaxial polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goossens-Devriendt syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75389/","orphanet_url":"https://www.orpha.net/en/disease/detail/75389","names":{"fr":{"name":"Syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie post-axiale","synonyms":["Syndrome de Goossens-Devriendt"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de croissance intra-utérin, de multiples malformations congénitales (à savoir, malformations cérébrales dont post-hypophyse ectopique, hypoplasie de l'antéhypophyse et du vermis cérébelleux, anomalies cardiaques et rénales et polydactylie post-axiale), une structure capillaire anormale avec une calvitie temporale, et une dysmorphie faciale à type d'hypoplasie du pont nasal, de narines antéversées, de dysplasie des oreilles, de philtrum long et lisse, d'une lèvre supérieure étroite et d'une lèvre inférieure proéminente et asymétrique. Un retard de croissance post-natal et un retard de développement sévère ont également été rapportés."},"de":{"name":"Hirnfehlbildung-kongenitaler Herzfehler-postaxiale Polydaktylie-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien. Es ist gekennzeichnet durch intrauterine Wachstumsretardierung, multiple kongenitale Fehlbildungen (wie z.B. Hirnfehlbildungen einschließlich ektoper Neurohypophyse, hypoplastischer Adenohypophyse und hypoplastischem Cerebellum, Herz- und Nierenanomalien und postaxialer Polydaktylie), abnormer Haarstruktur mit temporalem Haarausfall und Gesichtsdysmorphien (hypoplastischer Nasenrücken, antevertierte Nasenlöcher, dysplastische Ohren, langes und glattes Philtrum, schmale Oberlippe und prominente, asymmetrische Unterlippe). Postnatale Wachstumsretardierung und schwere Entwicklungsverzögerung wurden ebenfalls berichtet."},"es":{"name":"Síndrome de malformación cerebral-enfermedad cardíaca congénita-polidactilia postaxial","synonyms":["Síndrome de Goossens-Devriendt"],"definition":"Es un síndrome dismórfico/con múltiples anomalías congénitas, poco frecuente caracterizado por retraso del crecimiento intrauterino, malformaciones congénitas múltiples (tales como malformaciones cerebrales, incluyendo glándula neurohipofisaria ectópica, hipoplasia adenohipofisaria y del vermis cerebeloso, anomalías cardíacas y renales, así como polidactilia postaxial), estructura anómala del cabello con alopecia temporal y rasgos faciales dismórficos que incluyen puente nasal hipoplásico, narinas antevertidas, orejas displásicas, filtrum largo y liso, labio superior estrecho y labio inferior prominente y asimétrico. También se ha descrito retraso del crecimiento postnatal y grave retraso del desarrollo psicomotor."},"it":{"name":"Malformazione cerebrale-cardiopatia congenita-polidattilia postassiale","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita prenatale, malformazioni congenite multiple (malformazioni cerebrali che comprendono la neuroipofisi ectopica, l'ipoplasia dell'adenoipofisi e del verme cerebellare, le cardiopatie, le anomalie renali e le polidattilia postassiale), anomalie della struttura dei capelli con calvizie temporale e dismorfismi facciali (ipoplasia della sella nasale, narici anteverse, orecchie displasiche, filtro lungo e liscio, labbro superiore sottile e labbro inferiore prominente e asimmetrico). I pazienti possono presentare ritardo della crescita postnatale e grave ritardo dello sviluppo."},"nl":{"name":"Malformatie van hersenen - congenitale hartziekte - postaxiale polydactylie-syndroom","synonyms":["Syndroom van Goossens-Devriendt"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door intra-uteriene groeiretardatie, multipele congenitale malformaties (zoals hersenmalformaties waaronder ectopische neurohypofyse, hypoplastische adenohypofyse, en hypoplastische cerebellaire vermis, hart- en nieranomalieën, en postaxiale polydactylie), abnormale haarstructuur met temporale kaalheid, en dysmorfe gelaatskenmerken waaronder hypoplastische neusbrug, anteversie van de neusgaten, dysplastische oren, lang en glad filtrum, smalle bovenlip, en prominente en asymmetrische onderlip. Postnatale groeiretardatie en ernstige ontwikkelingsachterstand werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de malformação cerebral-doença cardíaca congénita-polidactilia pós-axial","synonyms":["Síndrome Goossens-Devriendt"]},"pl":{"name":"Malformacje mózgu - wrodzona choroba serca - polidaktylia zaosiowa","synonyms":["Zespół Goossensa i Devriendta"]},"cs":{"name":"Syndrom zahrnující malformaci mozku, vrozené onemocnění srdce a postaxiální polydaktylii","synonyms":["Goossensův-Devriendtův syndrom","Goossens-Devriendtův syndrom"]},"uk":{"name":"Синдром вади розвитку головного мозку-вродженої вади серця-постаксіальної полідактилії","synonyms":["Синдром Гуссенса-Девріндта"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported."},"zh":{"name":"脑畸形-先天性心脏病-轴后性多指综合征","synonyms":["Goossens-Devriendt综合征"]},"tr":{"name":"Beyin malformasyonu-Doğumsal kalp hastalığı-postaksiyal polidaktili sendromu","synonyms":["Goossens-Devriendt sendromu"]}},"xrefs":[{"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":"0019153","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303545","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]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16531731[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011747","label":"Abnormality of the anterior pituitary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011757","label":"Posterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null}]}}