{"orpha":2036,"name":"Scalp-ear-nipple syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Finlay-Marks syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2036/","orphanet_url":"https://www.orpha.net/en/disease/detail/2036","names":{"fr":{"name":"Syndrome du cuir chevelu-oreilles-mamelons","synonyms":["Syndrome de Finlay-Marks"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une aplasie cutis congénitale du cuir chevelu, des malformations du sein (hypothélie, athélie ou amastie) et des malformations des oreilles externes. Les symptômes cliniques variables observés sont les malformations des ongles et des dents, la syndactylie et la camptodactylie des doigts et/ou des orteils, la rareté ou l'absence d'une pilosité pubienne, les malformations rénales et la dysmorphie faciale. Des cas d'hypotonie grave et de retard de développement ont été rapportés."},"de":{"name":"Kopfhaut-Ohr-Mamillen-Syndrom","synonyms":["Finlay-Marks-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien/Dysmorphien, das durch Aplasia cutis congenita der Kopfhaut, Brustanomalien, die von Hypothelien oder Athelien bis zu Amastien reichen, und Anomalien der äußeren Ohren gekennzeichnet ist. Zu den variablen klinischen Merkmalen gehören Nagel- und Zahnanomalien, Syndaktylie und Camptodaktylie der Finger und/oder Zehen, spärliche oder fehlende sekundäre Geschlechtsbehaarung, Fehlbildungen der Nieren und Gesichtsdysmorphien. Es wurde von Fällen mit schwerer Hypotonie und Entwicklungsverzögerung berichtet."},"es":{"name":"Síndrome de cuero cabelludo-oreja-pezón","synonyms":["Síndrome de Finlay-Markes"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por aplasia cutis congénita del cuero cabelludo, anomalías mamarias que van desde hipotelia o atelia hasta amastia, y pabellones auriculares anómalos. Otras características clínicas variables incluyen anomalías ungueales y dentales, sindactilia y camptodactilia de los dedos de las manos y/o los pies, escasez o ausencia de vello sexual secundario, malformaciones renales y dismorfia facial. También se han descrito casos de hipotonía grave y retraso del desarrollo."},"it":{"name":"Sindrome cuoio capelluto-orecchio-capezzolo","synonyms":["Sindrome di Finlay-Marks"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da aplasia congenita della cute del cuoio capelluto, anomalie delle mammelle (ipotelia, atelia, amastia) e anomalie dell'orecchio esterno. Altri segni clinici variabili sono le anomalie delle unghie e dei denti, la sindattilia e la camptodattilia delle dita delle mani e/o dei piedi, i peli pubici radi o assenti, le malformazioni renali e i dismorfismi facciali. Sono stati descritti pazienti con ipotonia grave e ritardo dello sviluppo."},"nl":{"name":"Scalp - oor - tepel-syndroom","synonyms":["Syndroom van Finlay-Marks"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door aplasia cutis congenita van scalp, anomalieen van borst gaande van hypothelie of athelie tot amastie, en anomalieen van uitwendig oor. Variabele klinische kenmerken zijn onder meer anomalieen van nagels en gebit, syndactylie en camptodactylie van vingers en/of tenen, schaarse of afwezige secundaire lichaamsbeharing, malformaties van nier, en faciale dysmorfie. Er werden ook reeds gevallen met ernstige hypotonie en ontwikkelingsachterstand gerapporteerd."},"pt":{"name":"Síndrome couro cabeludo-pavilhão auricular-mamilo","synonyms":["Síndrome Finlay-Marks"]},"pl":{"name":"Zespół skóry głowy-ucha-sutka","synonyms":["Zespół Finlay'a i Marksa"]},"cs":{"name":"Syndrom skalp-ucho-bradavka","synonyms":["Finlayův-Marksův syndrom","Finlay-Marksův syndrom"]},"uk":{"name":"Синдром скальп–вухо–сосок (SEN)","synonyms":["Синдром Фінлея-Маркса"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported."},"zh":{"name":"头皮-耳朵-乳头综合征","synonyms":["Finlay-Marks 综合征"]},"tr":{"name":"Saçlı deri-kulak-meme sendromu","synonyms":["Finlay-Marks sendromu"]}},"xrefs":[{"source":"OMIM","code":"181270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"88843032"},{"source":"MONDO","code":"0008404","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536623","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867020","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"159","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3391,"name":"Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180173,"name":"Deficient breast volume or number","classifications":[205]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"KCTD1","name":"potassium channel tetramerization domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23541344[PMID]","hgnc":"18249","ensembl":"ENSG00000134504","omim":"613420","loci":["18q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011251","label":"Underdeveloped antitragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011272","label":"Underdeveloped tragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005580","label":"Duplication of renal pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012330","label":"Pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null}]}}