{"orpha":1487,"name":"Cooks syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome","ODP"],"definition":"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1487/","orphanet_url":"https://www.orpha.net/en/disease/detail/1487","names":{"fr":{"name":"Syndrome de Cooks","synonyms":["ODP","Syndrome d'anonychie-onychodystrophie avec hypoplasie ou absence de phalanges distales"],"definition":"Le syndrome de Cooks est un syndrome malformatif affectant les structures apicales des doigts et se manifestant par une hypo/aplasie des ongles et des phalanges distales. Plus de la moitié des doigts sont généralement atteints avec des pouces digitalisés."},"de":{"name":"Cooks-Syndrom","synonyms":["Anonychie-Onychodystrophie mit Hypoplasie oder Fehlen der distalen Phalangen"],"definition":"Das Cooks-Syndrom ist ein Fehlbildungssyndrom, das die apikalen Strukturen der Finger betrifft und sich mit Hypo/Aplasie der Nägel und distalen Phalangen präsentiert. In der Regel sind mehr als die Hälfte der Finger beteiligt auch eine Digitalisierung (Triphalangie) des Daumens kann vorliegen."},"es":{"name":"Síndrome de Cooks","synonyms":["Anoniquia-onicodistrofia con hipoplasia o ausencia de falanges distales","ODP"],"definition":"El síndrome de Cooks es un síndrome malformativo que afecta a las estructuras apicales de los dedos y se presenta con hipo/aplasia de las uñas y de las falanges distales. Por lo general, afecta a más de la mitad de los dedos y los pulgares pueden aparecer digitalizados."},"it":{"name":"Sindrome di Cooks","synonyms":["Anonichia - onicodistrofia con ipoplasia o assenza delle falangi distali","ODP"],"definition":"La sindrome di Cooks è una condizione malformativa che interessa le strutture apicali delle dita delle mani e si manifesta con ipo/aplasia delle unghie e delle falangi distali. Sono interessate oltre la metà delle dita e i pollici possono sembrare trifalangei."},"nl":{"name":"Syndroom van Cooks","synonyms":["Anonychie - onychodystrofie met hypoplasie of afwezigheid van distale falangen-syndroom","ODP"],"definition":"Cookssyndroom is een malformatiesyndroom dat de apicale structuren van de vingers en tenen aantast en zich presenteert met hypoplasie/aplasie van de nagels en distale falangen. Meestal zijn meer dan 50% van de vingers/tenen betrokken en de duimen kunnen gedigitaliseerd lijken."},"pt":{"name":"Síndrome Cooks","synonyms":["Anoníquia-onicodistrofia com hipoplasia ou ausência das falanges distais"]},"pl":{"name":"Zespół Cooksa","synonyms":["Anonychia - onychodystrofia z hipoplazją lub brakiem paliczków dalszych","ODP"]},"cs":{"name":"Cooksové syndrom","synonyms":["Syndrom zahrnující anonychii a onychodystrofii s hypoplázií nebo aplázií distálního falangu","ODP"]},"uk":{"name":"Синдром Кукса","synonyms":["Синдром аноніхії - оніходистрофії з гіпоплазією або відсутністю дистальних фаланг","ODP"],"definition":"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized."},"zh":{"name":"Cooks综合征","synonyms":["无甲或甲发育不全伴末节指骨发育不全或缺失综合征"]},"tr":{"name":"Cooks Sendromu","synonyms":["ODP","Hipoplazili anonişi-onikodistrofi veya distal falanks sendromunun yokluğu"]}},"xrefs":[{"source":"OMIM","code":"106995","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1806277234"},{"source":"MONDO","code":"0007134","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862841","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2355,"name":"Kumar-Levick syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"22329539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22329539[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null}]}}