{"orpha":506358,"name":"Gabriele-de Vries syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["YY1 haploinsufficiency syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-506358/","orphanet_url":"https://www.orpha.net/en/disease/detail/506358","names":{"fr":{"name":"Syndrome de Gabriele-de Vries","synonyms":["Syndrome par haploinsuffisance de YY1"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement et une déficience intellectuelle de sévérité variable, des anomalies du mouvement et de la démarche et une dysmorphie crânio-faciale (à savoir une asymétrie faciale, un front proéminent, des oreilles inclinées vers l'arrière, une lèvre inférieure épaisse, une micrognathie ou une fente palatine). D'autres types de malformations congénitales ont par ailleurs été rapportés, à savoir, des anomalies oculaires, rénales, cardiaques et articulaires. Certains patients présentent des changements de comportement (autisme, hyperactivité ou anxiété)."},"de":{"name":"Gabriele-De Vries-Syndrom","synonyms":["YY1-Haploinsuffizienz-Syndrom"],"definition":"Ein genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch unterschiedliche Entwicklungsverzögerungen und intellektuelle Beeinträchtigungen, Bewegungsstörungen oder Ganganomalien sowie dysmorphe kraniofaziale Merkmale (wie Gesichtsasymmetrie, breite Stirn, nach hinten gedrehte Ohren, dicke Unterlippe, Mikrognathie oder Gaumenspalte) gekennzeichnet ist. Darüber hinaus wurde über eine Vielzahl von angeborenen Fehlbildungen berichtet, unter anderem über Augen-, Nieren-, Herz- und Gelenkanomalien. Einige Patienten zeigen Verhaltensstörungen (Autismus, Hyperaktivität oder Angstzustände)."},"es":{"name":"Síndrome de Gabriele-de Vries","synonyms":["Síndrome de haploinsuficiencia de YY1"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por un retraso variable del desarrollo y discapacidad intelectual, trastorno del movimiento o anomalías de la marcha y características craneofaciales dismórficas (como asimetría facial, frente amplia, orejas en rotación posterior, labio inferior grueso, micrognatia o paladar hendido). Además, se ha descrito una variedad de malformaciones congénitas, incluyendo anomalías oculares, renales, cardíacas y articulares, entre otras. Algunos pacientes presentan trastornos de la conducta (autismo, hiperactividad o ansiedad)."},"it":{"name":"Sindrome di Gabriele de Vries","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo e disabilità intellettiva di gravità variabile, anomalie del movimento o dell'andatura e dismorfismi craniofacciali (asimmetria del viso, fronte ampia, orecchie ruotate posteriormente, labbro inferiore grosso, micrognazia, palatoschisi). I pazienti possono presentare anche malformazioni oculari, renali, cardiache e articolari congenite. Alcuni pazienti presentano alterazioni del comportamento (autismo, iperattività o ansia)."},"nl":{"name":"Syndroom van Gabriele-de Vries","synonyms":["Syndroom door YY1-haploinsufficiëntie"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door variabele ontwikkelingsachterstand en intellectuele achterstand, bewegingsstoornis of gangstoornis, en dysmorfe craniofaciale kenmerken (zoals asymmetrie van aangezicht, breed voorhoofd, naar achteren gedraaide oren, dikke onderlip, micrognathie, of gespleten verhemelte). Bijkomend werden verschillende congenitale malformaties gerapporteerd, waaronder anomalieën van oog, nier, hart, en gewricht. Sommige patiënten vertonen gedragsveranderingen (autisme, hyperactiviteit, of angst)."},"pt":{"name":"Síndrome Gabriele de Vries"},"pl":{"name":"Zespół Gabrielego i de Vriesa","synonyms":["Zespół haploinsuficjencji YY1"]},"cs":{"name":"Gabrielův-de Vriesův syndrom","synonyms":["Syndrom haploinsuficience YY1","Gabriele-de Vriesův syndrom"]},"uk":{"name":"Синдром Габріеле-де Вріса","synonyms":["Синдром гаплонедостатності YY1"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety)."},"zh":{"name":"Gabriele-de Vries综合征","synonyms":["YY1单倍不足综合症"]},"tr":{"name":"Gabriele-de Vries sendromu","synonyms":["YY1 haploins yeterlilik sendromu"]}},"xrefs":[{"source":"OMIM","code":"617557","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4479652","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]}],"children":[],"genes":[{"symbol":"YY1","name":"YY1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28575647[PMID]","hgnc":"12856","ensembl":"ENSG00000100811","omim":"600013","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"28575647[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28575647[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-22","source":"31145572[PMID]_28575647[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011339","label":"Abnormality of upper lip vermillion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005684","label":"Distal arthrogryposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010316","label":"Ebstein anomaly of the tricuspid valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006094","label":"Finger joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002236","label":"Frontal upsweep of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007678","label":"Lacrimal duct stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010499","label":"Patellar subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011311","label":"Sydney crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}