{"orpha":1292,"name":"Brachymorphism-onychodysplasia-dysphalangism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BOD syndrome","Senior syndrome"],"definition":"A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1292/","orphanet_url":"https://www.orpha.net/en/disease/detail/1292","names":{"fr":{"name":"Syndrome de brachymorphie-onychodysplasie-dysphalangie","synonyms":["Syndrome BOD","Syndrome de Senior"],"definition":"Syndrome malformatif rare caractérisé par l'association d'une petite taille, d'une hypoplasie des cinquièmes doigts comportant de minuscules ongles dysplasiques, d'une dysmorphie faciale avec des traits grossiers incluant une bouche et un nez larges, et d'un léger déficit intellectuel. Le syndrome pourrait représenter un variant allélique du syndrome de Coffin-Siris."},"de":{"name":"Brachymorphie-Onychodysplasie-Dysphalangie-Syndrom","synonyms":["BOD-Syndrom","Senior-Syndrom"],"definition":"Ein seltenes Fehlbildungs-Syndrom, das durch Kleinwuchs, hypoplastische fünfte Finger mit winzigen dysplastischen Nägeln, Gesichtsdysmorphien mit groben Gesichtszügen, einschließlich eines breiten Mundes und einer breiten Nase, und leichte Intelligenzminderung gekennzeichnet ist. Es wird vermutet, dass das Coffin-Siris-Syndrom und das BOD-Syndrom evtl. allelische Varianten sind."},"es":{"name":"Síndrome de braquimorfismo-oncodisplasia-disfalangismo","synonyms":["Síndrome de Bod","Síndrome de Senior"],"definition":"Es un síndrome malformativo poco frecuente caracterizado por talla baja, hipoplasia del quinto dedo con pequeñas uñas displásicas, dismorfia facial con rasgos toscos incluyendo boca y puente nasal amplios, y déficit intelectual leve. Se ha sugerido que el síndrome de Coffin-Siris y el síndrome BOD podrían ser variantes alélicas."},"it":{"name":"Brachimorfismo - onicodisplasia - disfalangismo","synonyms":["Sindrome BOD","Sindrome di Senior"],"definition":"Il brachimorfismo-onicodisplasia-disfalangismo (BOD) è una sindrome malformativa molto rara caratterizzata da bassa statura, ipoplasia bilaterale del quinto dito associata ad ipoplasia/displasia delle unghie, dismorfismi facciali con naso grosso e bocca larga, e lieve disabilità cognitiva. È stato ipotizzato che la sindrome di Coffin-Siris (si veda questo termine) e la sindrome BOD siano varianti allelliche."},"nl":{"name":"Brachymorfie - onychodysplasie - dysfalangie-syndroom","synonyms":["BOD-syndroom","Syndroom van Senior"],"definition":"Een zeldzaam malformatiesyndroom, gekenmerkt door kleine gestalte, hypoplastische vijfde digiti met kleine dysplastische nagels, faciale dysmorfie met grove gelaatstrekken waaronder brede mond en neus, en milde intellectuele achterstand. Er werd geopperd dat syndroom van Coffin-Siris en BOD-syndroom misschien allelische varianten zijn."},"pt":{"name":"Síndrome de braquimorfismo-onicodisplasia-disfalangia","synonyms":["Síndrome BOD","Síndrome sénior"]},"pl":{"name":"Brachymorphism - dysplazja paznokci - dysphalangism","synonyms":["Zespół BOD","Zespół Seniora"],"definition":"Rzadki zespół wad rozwojowych, który charakteryzuje się niskim wzrostem, niedorozwojem piątych palców z drobnymi dysplastycznymi paznokciami, dysmorfią twarzy z grubymi rysami, w tym szerokimi ustami i szerokim nosem oraz łagodną niepełnosprawnością intelektualną. Sugerowano, że zespół Coffina-Sirisa i zespół BOD są prawdopodobnie wariantami allelicznymi."},"cs":{"name":"Syndrom zahrnující brachymorfismus, onychodysplázii a dysfalangismus","synonyms":["BOD syndrom","Seniorův syndrom"]},"uk":{"name":"Синдром брахіморфізму-оніходисплазії-дисфалангізму","synonyms":["Синдром BOD","Синдром Сеньора"],"definition":"A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants."},"zh":{"name":"短指畸形-甲发育不良-指（趾）骨发育不全综合征","synonyms":["Senior综合征"]},"tr":{"name":"Brakimorfizm-onikodisplazi-disfalangizm sendromu","synonyms":["BOD sendromu","Senior sendrom"]}},"xrefs":[{"source":"OMIM","code":"113477","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007230","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862082","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"5567413[PMID]_8445623[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5567413[PMID]_8445623[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008398","label":"Hypoplastic fifth fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001857","label":"Short distal phalanx of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}