{"orpha":1970,"name":"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1970/","orphanet_url":"https://www.orpha.net/en/disease/detail/1970","names":{"fr":{"name":"Syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle sévère, la malformation de Dandy-Walker, une macrocéphalie, une myopie sévère, une brachytéléphalangie avec des ongles courts et larges, et une dysmorphie faciale (sourcils épais, synophridie, épicanthus, oreilles d'implantation basse, philtrum court et palais ogival). Parmi les autres manifestations rapportées, figurent des convulsions et des anomalies squelettiques et génitales, entre autres. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Gesichtsdysmorphie-Makrozephalie-Myopie-Dandy-Walker-Fehlbildung-Syndrom","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, gekennzeichnet durch schwere Intelligenzminderung, Dandy-Walker-Fehlbildung, Makrozephalie, schwere Myopie, Brachytelephalie mit kurzen und breiten Fingernägeln und Gesichtsdysmorphien (z. B. dicke Augenbrauen, Synophrys, Epikanthusfalten, tiefsitzende Ohren, kurzes Philtrum und hoher Gaumen). Darüber hinaus werden Krampfanfälle sowie Skelett- und Genitalanomalien beschrieben. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de dismorfia facial-macrocefalia-miopía-malformación de Dandy-Walker","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, poco frecuente, caracterizado por grave discapacidad intelectual, malformación de Dandy-Walker, macrocefalia, alta miopía, braquitelefalangia con uñas de las manos cortas y anchas y rasgos faciales dismórficos (cejas espesas, sinofridia, pliegues epicánticos, orejas de implantación baja, filtrum corto y paladar ojival). Otras manifestaciones descritas con crisis epilépticas y anomalías esqueléticas y genitales, entre otras. No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome da dismorfismo facciale-macrocefalia-miopia-malformazione di Dandy Walker","definition":"Si tratta di una malattia congenita rara da anomalie/dismorfismi congeniti multipli, caratterizzata da deficit intellettivo grave, malformazione di Dandy-Walker, macrocefalia, miopia grave, brachitelefalangia con unghie delle mani corte e larghe, e dismorfismi facciali (sopracciglia spesse, sinofria, epicanto, orecchie a basso impianto, filtro corto e palato ogivale). I pazienti possono presentare anche crisi epilettiche e anomalie scheletriche e dei genitali. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Faciale dysmorfie - macrocefalie - myopie - Dandy-Walker malformatie-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door ernstige intellectuele achterstand, Dandy-Walker malformatie, macrocefalie, ernstige myopie, brachytelefalangie met korte en brede vingernagels, en dysmorfe gelaatskenmerken (zoals dikke wenkbrauwen, synophrys, epicanthusplooien, laagstaande oren, kort filtrum, en hoog gebogen gehemelte). Bijkomend gerapporteerde manifestaties zijn onder meer insulten en anomalieën van skelet en geslachtsorganen. Sinds 1989 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de dismorfia facial-macrocefalia-miopia-malformação de Dandy-Walker"},"pl":{"name":"Dysmorfia twarzy - makrocefalia - miopia - malformacja Dandy'ego-Walkera"},"cs":{"name":"Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandyho-Walkerovu malformaci","synonyms":["Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandy-Walkerovu malformaci"]},"uk":{"name":"Синдром дисморфізму обличчя-макроцефалії-міопії-мальформації Денді-Уокера","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989."},"zh":{"name":"面部畸形-大头-近视-Dandy-Walker畸形综合征"},"tr":{"name":"Yüz dismorfizmi-makrosefali-miyopi-Dandy-Walker malformasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"220219","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518773","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":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2591071[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2591071[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011039","label":"Abnormal helix morphology","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:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001821","label":"Broad nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001099","label":"Fundus atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null}]}}