{"orpha":96169,"name":"Koolen-De Vries syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KdVS"],"definition":"A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96169/","orphanet_url":"https://www.orpha.net/en/disease/detail/96169","names":{"fr":{"name":"Syndrome de Koolen-De Vries","synonyms":["KdVS"],"definition":"Maladie multisystémique rare caractérisée par une hypotonie néonatale/infantile, un retard de développement ou une déficience intellectuelle légers à modérés, une épilepsie, une dysmorphie faciale, une hypermétropie, des anomalies cardiaques congénitales, des anomalies rénales/urologiques congénitales, des problèmes musculo-squelettiques et un tempérament amical/jovial."},"de":{"name":"Koolen-de Vries-Syndrom","synonyms":["Del(17)(q21.31)","KdV-Syndrom","KdVS","Mikrodeletionssyndrom 17q21.31","Monosomie 17q21.31"],"definition":"Eine seltene Multisystemstörung gekennzeichent durch neonatale Hypotonie, leichte bis mittlere Entwicklungsverzögerung oder Intelligenzminderung, Epilepsie, dysmorphe Gesichtszüge, Hypermetropie, angeborene Herzanomalien, angeborene Nierenfehlbildungen/Harnwegsanomalien, muskuloskelettale Probleme und ein freundlich-liebenswertes Verhalten."},"es":{"name":"Síndrome de Koolen-De Vries","synonyms":["KdVS"],"definition":"Es un trastorno multisistémico poco común caracterizado por hipotonía neonatal/ infantil, retraso psicomotor de leve a moderado o discapacidad intelectual, epilepsia, rasgos faciales dismórficos, hipermetropía, anomalías cardíacas congénitas, anomalías congénitas renales/ urológicas, problemas musculoesqueléticos y una disposición afable."},"it":{"name":"Sindrome di Koolen-De Vries","synonyms":["KdVS"],"definition":"La sindrome di Koolen-De Vries (KdVS) è una malattia multisistemica rara, caratterizzata da ipotonia neonatale/infantile, ritardo dello sviluppo lieve-moderato o disabilità intellettiva, epilessia, dismorfismi facciali, ipermetropia, cardiopatie congenite, anomalie renali/urologiche congenite, anomalie muscolo-scheletriche e temperamento amichevole/socievole."},"nl":{"name":"Syndroom van Koolen-de Vries","synonyms":["KdVS"],"definition":"Een zeldzame, multisystemische aandoening, gekarakteriseerd door hypotonie bij neonaten/kinderen, milde tot matige ontwikkelingsachterstand of intellectuele achterstand, epilepsie, dysmorfe gelaatskenmerken, hypermetropie, congenitale hartanomalieën, congenitale renale/urologische anomalieën, musculoskeletale problemen, en een vriendelijk/aimabel karakter."},"pt":{"name":"Monossomia 17q21.31"},"pl":{"name":"Zespół Koolena i De Vries","synonyms":["KdVS"]},"cs":{"name":"Koolenův-de Vriesův syndrom","synonyms":["KdVS","Koolen-de Vriesův syndrom"]},"uk":{"name":"Синдром Кулена-Де Вріса","synonyms":["KdVS"],"definition":"A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition."},"zh":{"name":"Koolen-De Vries 综合征","synonyms":["KdVS"],"definition":"一种罕见的多系统疾病，以新生儿/儿童期肌张力减退、轻度至中度发育迟缓或智力障碍、癫痫、特殊面容、远视、先天性心脏异常、先天性肾脏/泌尿系统异常、肌肉骨骼问题和友好/亲切的性格为特征。"},"tr":{"name":"Koolen-De Vries sendromu","synonyms":["KdVS"]}},"xrefs":[{"source":"OMIM","code":"610443","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012496","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10727","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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[{"orpha":363958,"name":"17q21.31 microdeletion syndrome","type":"Etiological subtype"},{"orpha":363965,"name":"Koolen-De Vries syndrome due to a point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"KANSL1","name":"KAT8 regulatory NSL complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22544363[PMID]_22544367[PMID]_20301783[PMID]","hgnc":"24565","ensembl":"ENSG00000120071","omim":"612452","loci":["17q21.31"],"via":{"orpha":363965,"name":"Koolen-De Vries syndrome due to a point mutation"}},{"symbol":"KANSL1","name":"KAT8 regulatory NSL complex subunit 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19447831[PMID]","hgnc":"24565","ensembl":"ENSG00000120071","omim":"612452","loci":["17q21.31"],"via":{"orpha":363958,"name":"17q21.31 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_26306646[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-22","source":"20301783[PMID]_34665525[PMID]","terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","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:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100025","label":"Overfriendliness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001054","label":"Numerous nevi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025268","label":"Stuttering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}