{"orpha":69085,"name":"Limb-mammary syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LMS"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69085/","orphanet_url":"https://www.orpha.net/en/disease/detail/69085","names":{"fr":{"name":"Syndrome limb-mammary","synonyms":["SLM","Syndrome d'anomalies des membres-anomalies mammaires"],"definition":"Le syndrome « limb-mammary » (SLM) est une maladie génétique rare appartenant au groupe des dysplasies ectodermiques."},"de":{"name":"Limb-Mammary-Syndrom","synonyms":["LMS"],"definition":"Das Limb-Mammary-Syndrom (LMS) ist eine seltene Krankheit aus der Gruppe der Ektodermale-Dysplasie-Syndrome, das durch schwere Hand-/Fußanomalien, Brust- und/oder Brustwarzenhypoplasie und ektodermale Dysplasien (vor allem Zahn- und Nagelanomalien) gekennzeichnet ist. Eine Lippen-/Gaumenspalte kann in unterschiedlichem Maße vorhanden sein."},"es":{"name":"Síndrome de extremidades-mamario","synonyms":["LMS"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente, de origen genético, caracterizado por anomalías graves en manos y pies, hipoplasia de mamas y/o pezones y displasia ectodérmica (principalmente anomalías dentarias y ungueales). La hendidura labio/ palatina puede estar presente de forma variable."},"it":{"name":"Sindrome da anomalie mammarie e degli arti","synonyms":["LMS"]},"nl":{"name":"Ledemaat-borstsyndroom","synonyms":["LMS"],"definition":"Een zeldzaam, genetisch syndroom van ectodermale dysplasie, gekarakteriseerd door ernstige anomalieën van handen/voeten, hypoplasie van borst en/of tepel, en ectodermale dysplasie (vooral tand- en nagelanomalieën). Gespleten lip/verhemelte kan variabel aanwezig zijn."},"pt":{"name":"Síndrome membros-mama","synonyms":["LMS"]},"pl":{"name":"Zespół kończynowo-sutkowy","synonyms":["LMS"]},"cs":{"name":"Syndrom zahrnující končetinové anomálie a mamární hypoplázii","synonyms":["LMS"]},"uk":{"name":"Синдром аномалії кінцівок-грудної залози","synonyms":["LMS"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present."},"zh":{"name":"四肢-乳房综合征","synonyms":["LMS"]},"tr":{"name":"Ekstremite-memeli sendromu","synonyms":["LMS"]}},"xrefs":[{"source":"OMIM","code":"603543","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1958986288"},{"source":"MONDO","code":"0011334","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863753","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10051","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":98609,"name":"EEC syndrome and related disorders","classifications":[147,156,187,189]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11462173[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"Pr MANOUVRIER-HANU Sylvie[EXPERT]_26075610[PMID]_9973291[PMID]_20410354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26075610[PMID]_9973291[PMID]_20410354[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-31","source":"2199012[PMID]_26075610[PMID]_20556892[PMID]_18627043[PMID]_9973291[PMID]","terms":[{"hpo":"HP:0001092","label":"Absent lacrimal punctum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002561","label":"Absent nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012814","label":"Bilateral breast hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000564","label":"Lacrimal duct atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011939","label":"3-4 finger cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007717","label":"Chronic irritative conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410005","label":"Cleft hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010463","label":"Aplasia of the ovary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very rare (<4-1%)","criteria":null}]}}