{"orpha":502,"name":"Trichorhinophalangeal syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Langer-Giedion syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502/","orphanet_url":"https://www.orpha.net/en/disease/detail/502","names":{"fr":{"name":"Syndrome trichorhinophalangien type 2","synonyms":["Syndrome de Langer-Giedion","Syndrome tricho-rhino-phalangien type 2"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une déficience intellectuelle, une petite taille, des cheveux clairsemés et dépigmentés, des traits faciaux distinctifs (sourcils larges, en particulier la partie médiane, arrête et pointe nasales larges, philtrum long, lèvre supérieure fine et oreilles proéminentes), des malformations des membres (brachydactylie, métacarpiens et métatarsiens courts, épiphyses phalangiennes en forme de cône, dystrophie des ongles et dysplasie de la hanche) et de multiples exostoses cartilagineuses."},"de":{"name":"Tricho-rhino-phalangeales-Syndrom Typ 2","synonyms":["Langer-Giedion-Syndrom","TRPS Typ 2"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Fehlbildungen, gekennzeichnet durch Intelligenzminderung, Kleinwuchs, spärliche und depigmentierte Kopfbehaarung, typische Gesichtsmerkmale (breite Augenbrauen, insbesondere im medialen Bereich, breiter Nasenrücken und breite Nasenspitze, unterentwickelte Nasenflügel, langes Philtrum, dünne Oberlippe und abstehende Ohren), Anomalien der Extremitäten (Brachydaktylie, kurze Mittelhand- und Mittelfußknochen, konische Phalangenepiphysen, dystrophische Nägel und Hüftdysplasie) und multiple Knorpelexostosen."},"es":{"name":"Síndrome trico-rino-falángico tipo 2","synonyms":["Síndrome de Langer-Giedion"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por discapacidad intelectual, talla baja, cabello escaso y despigmentado, rasgos faciales característicos (cejas anchas, especialmente en la parte medial, cresta y punta nasal anchas, alas nasales infradesarrolladas, filtrum largo, bermellón del labio superior fino, y orejas prominentes), anomalías de las extremidades (braquidactilia, acortamiento de los metacarpianos y metatarsianos, epífisis falángicas en forma de cono, distrofia ungueal y displasia de cadera) y exostosis cartilaginosa múltiple."},"it":{"name":"Sindrome trico-rino-falangea tipo 2","synonyms":["Sindrome di Langer-Giedion","Sindrome trico-rino-falangea, tipo 2"],"definition":"La sindrome di Langer-Giedon, nota anche come sindrome trico-rino-falangea tipo 2, è una malattia genetica molto rara da difetti congeniti multipli, caratterizzata da anomalie scheletriche, dismorfismi facciali caratteristici, esostosi multiple e disabilità intellettiva."},"nl":{"name":"Trichorinofalangeaal syndroom type 2","synonyms":["Syndroom van Langer-Giedion"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door intellectuele achterstand, kleine gestalte, schaars en gedepigmenteerd haar op scalp, typische gelaatskenmerken (brede wenkbrauwen, vooral het middelste deel, brede neusrug en neuspunt, onderontwikkelde neusvleugels, lang filtrum, dun vermiljoen van bovenlip, en afstaande oren), ledemaatanomalieën (brachydactylie, korte metacarpalen en metatarsalen, kegelvormige falangeale epifysen, dystrofische nagels, en dysplasie van heup), en multipele kraakbenige exostosen."},"pt":{"name":"Síndrome trico-rino-falângica tipo 2","synonyms":["Síndrome Langer-Giedion"],"definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por perturbação do desenvolvimento intelectual, baixa estatura, cabelo esparso e despigmentado, características faciais típicas (sobrancelhas largas, especialmente na porção medial, ponte e ponta nasais largas, asas nasais subdesenvolvidas, filtro longo, lábio superior fino e pavilhões auriculares salientes), anomalias dos membros (braquidactilia, metacarpos e metatarsos curtos, epífises das falanges em cone, unhas distróficas e displasia da anca) e múltiplas exostoses cartilaginosas."},"pl":{"name":"Zespół Langera i Giediona","synonyms":["Delecja 8q24.1","Monosomia 8q24.1","Zespół włosowo-nosowo-palcowy typu 2"]},"cs":{"name":"Langerův-Giedionův syndrom","synonyms":["Delece 8q24.1","Monozomie 8q24.1","Trichorhinofalangeální syndrom, typ 2","Langer-Giedionův syndrom"]},"uk":{"name":"Трихоринофаланговий синдром, тип 2","synonyms":["Синдром Лангера-Гедіона"],"definition":"A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses."},"zh":{"name":"毛发-鼻-指(趾)综合征2型","synonyms":["Langer-Giedion综合征"]},"tr":{"name":"Trikhorinofalangeal sendrom tip 2","synonyms":["Delesyon 8q24.1","Monozomi 8q24.1","Langer-Giedion sendromu"]}},"xrefs":[{"source":"OMIM","code":"150230","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.80","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"315453775"},{"source":"MONDO","code":"0007874","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023003","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7801","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050638","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 syndrome","classifications":[147,156]},{"orpha":324764,"name":"Trichorhinophalangeal syndrome","classifications":[147,156,187,199]}],"children":[],"genes":[{"symbol":"EXT1","name":"exostosin glycosyltransferase 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"3512","ensembl":"ENSG00000182197","omim":"608177","loci":["8q24.11"]},{"symbol":"RAD21","name":"RAD21 cohesin complex component","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25792522[PMID]","hgnc":"9811","ensembl":"ENSG00000164754","omim":"606462","loci":["8q24.11"]},{"symbol":"TRPS1","name":"transcriptional repressor GATA binding 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"12340","ensembl":"ENSG00000104447","omim":"604386","loci":["8q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26269715[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"26269715[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005039","label":"Multiple long-bone exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009118","label":"Aplasia/Hypoplasia of the mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}