{"orpha":3138,"name":"Ulnar-mammary syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pallister ulnar-mammary syndrome","Schinzel syndrome","UMS"],"definition":"A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3138/","orphanet_url":"https://www.orpha.net/en/disease/detail/3138","names":{"fr":{"name":"Syndrome cubito-mammaire","synonyms":["Syndrome cubito-mammaire de Pallister","Syndrome de Schinzel","UMS"],"definition":"Syndrome rare d'anomalies congénitales caractérisé par un spectre variable d'anomalies ulnaires, une hypoplasie des glandes mammaires et apocrines et des anomalies génitales. Les signes les plus fréquents sont des anomalies du 5<sup>e</sup> doigt et des anomalies dentaires, un retard pubertaire et une hypoplasie mammaire. Une petite taille et une obésité sont courantes."},"de":{"name":"Ulna-Mamma-Syndrom","synonyms":["Schinzel-Syndrom","UMS","Ulna-Mamma-Syndrom Typ Pallister"],"definition":"Ein seltenes kongenitales Fehlbildungssyndrom, das durch ein variables Spektrum von Ulnardefekten, Hypoplasie der Brustdrüse und der apokrinen Drüsen sowie Genitalanomalien gekennzeichnet ist. Zu den häufigsten Anzeichen gehören Anomalien des fünften Fingers und der Zähne, eine verzögerte Pubertät und eine Hypoplasie der Brustdrüse. Kleinwuchs und Adipositas sind häufig."},"es":{"name":"Síndrome ulnar-mamario","synonyms":["Síndrome cubital-mamario de Pallister","Síndrome de Schinzel","UMS"],"definition":"Es un síndrome poco frecuente de anomalías congénitas caracterizado por un espectro variable de defectos cubitales, hipoplasia de las glándulas mamarias y apocrinas y anomalías genitales. Los signos más frecuentes incluyen anomalías dentarias y del quinto dedo de la mano, retraso puberal e hipoplasia mamaria. La talla baja y la obesidad son comunes."},"it":{"name":"Sindrome ulnare-mammaria","synonyms":["Sindrome di Schinzel","Sindrome ulnare-mammaria di Pallister","UMS"],"definition":"La sindrome ulnare-mammaria (UMS) è una malattia rara da anomalie congenite, caratterizzata da uno spettro variabile che comprende i difetti dell'ulna, l'ipoplasia mammaria e delle ghiandole apocrine, e le anomalie dei genitali. I segni clinici più comuni sono le anomalie del quinto dito e dei denti, il ritardo della pubertà e l'ipoplasia mammaria. Sono comuni la bassa statura e l'obesità."},"nl":{"name":"Ulnair-mammair syndroom","synonyms":["Schinzelsyndroom","UMS","Ulnair-mammair syndroom van Pallister"],"definition":"Een zeldzaam syndroom van congenitale anomalieën, gekenmerkt door een variabel spectrum van defecten van ulna, hypoplasie van borstklier en apocriene klier, en genitale anomalieën. De meest frequente verschijnselen zijn afwijkingen van vijfde vinger, dentale anomalieën, uitgestelde puberteit, en hypoplasie van borstklier. Kleine gestalte en obesitas komen vaak voor."},"pt":{"name":"Síndrome cúbito-mamário","synonyms":["Síndrome Schinzel","Síndrome cúbito-mamário Pallister","UMS"],"definition":"Síndrome rara de anomalias congénitas caracterizada por um espetro variável de defeitos a nível ulnar, hipoplasia das glândulas mamárias e apócrinas, e anomalias genitais. Os sinais clínicos mais frequentes incluem quinto dedo e anomalias dentárias, puberdade tardia e hipoplasia mamária. A baixa estatura e a obesidade são características comuns."},"pl":{"name":"Zespół łokciowo-piersiowy","synonyms":["UMS","Zespół łokciowo-sutkowy Pallistera","Zespół Schinzela"]},"cs":{"name":"Ulnární-mamární syndrom","synonyms":["UMS","Pallisterův ulnární-mamární syndrom","Schinzelův syndrom"]},"uk":{"name":"Ліктьово-маммарний синдром","synonyms":["Ліктьово-матеріальний синдром Паллістера","Синдром Шинцеля","UMS"],"definition":"A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common."},"zh":{"name":"尺骨-乳腺综合征","synonyms":["Pallister尺骨-乳腺综合征"]},"tr":{"name":"Ulnar-mammary sendromu","synonyms":["UMS","Schinzel sendromu","Pallister ulnar-meme sendromu"]}},"xrefs":[{"source":"OMIM","code":"181450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1508836700"},{"source":"MONDO","code":"0008411","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536937","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866994","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180173,"name":"Deficient breast volume or number","classifications":[205]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"TBX3","name":"T-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19938096[PMID]_10330342[PMID]_12668170[PMID]","hgnc":"11602","ensembl":"ENSG00000135111","omim":"601621","loci":["12q24.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":128.0,"area":"Worldwide","status":"Validated","source":"24679913[PMID]_30654152[PMID]_ 30550377[PMID]_ 28145909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-09","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002221","label":"Absent axillary hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009751","label":"Aplasia of the pectoralis major muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}