{"orpha":77258,"name":"Trichorhinophalangeal syndrome type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by 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), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77258/","orphanet_url":"https://www.orpha.net/en/disease/detail/77258","names":{"fr":{"name":"Syndrome trichorhinophalangien type 1","definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une petite taille, des cheveux clairsemés et dépigmentés, des traits faciaux distinctifs (sourcils larges, en particulier la partie médiane, arrête et pointe nasales larges, les ailes du nez insuffisamment développées, 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)."},"de":{"name":"Tricho-rhino-phalangeales Syndrom Typ 1","synonyms":["TRPS Typ 1"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch Kleinwuchs, spärliche und depigmentierte Kopfbehaarung, typische Gesichtsmerkmale (breite Augenbrauen, insbesondere im medialen Bereich, breiter Nasenrücken und breite Nasenspitze, unterentwickelte Nasenflügel, langes Philtrum, dünnes Oberlippenvermillion und abstehende Ohren) und Gliedmaßenanomalien (Brachydaktylie, kurze Mittelhand- und Mittelfußknochen, konische Phalangenepiphysen, dystrophische Nägel und Hüftdysplasie) gekennzeichnet ist."},"es":{"name":"Síndrome trico-rino-falángico tipo 1","definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por 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)."},"it":{"name":"Sindrome trico-rino-falangea tipo 1","definition":"Si tratta di una malattia genetica rara, caratterizzata da capelli radi, sopracciglia lateralmente sottili, dismorfismi facciali sfumati (punta del naso globosa, filtro lungo e piatto, porzione mucosa del labbro superiore sottile, orecchie prominenti) e anomalie scheletriche (epifisi delle falangi a cono, displasia delle anche e bassa statura). Il tipo 3 può essere differenziato per la presenza di brachidattilia grave secondaria all'accorciamento dei metacarpi. In entrambi i tipi non sono presenti esostosi cartilaginee."},"nl":{"name":"Trichorinofalangeaal syndroom type 1","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door 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), en ledemaatanomalieën (brachydactylie, korte metacarpalen en metatarsalen, kegelvormige falangeale epifysen, dystrofische nagels, en dysplasie van heup)."},"pt":{"name":"Síndrome trico-rino-falangica tipo 1","definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por baixa estatura, cabelos esparsos e despigmentados no couro cabeludo, características faciais típicas (sobrancelhas largas, especialmente a porção medial, crista e ponta nasais largas, asas nasais subdesenvolvidas, filtro longo, lábio superior fino e pavilhões auriculares salientes) e anomalias dos membros (braquidactilia, metacarpos e metatarsos curtos, epífises das falanges em forma de cone, unhas distróficas e displasia da anca)."},"pl":{"name":"Zespół włosowo-nosowo-paliczkowy typu 1"},"cs":{"name":"Trichorhinofalangeální syndrom, typ 1 a 3"},"uk":{"name":"Трихорино-фаланговий синдром, тип 1","definition":"A rare multiple congenital anomalies syndrome characterized by 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), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia)."},"zh":{"name":"毛发鼻指(趾)综合征1型和3型"},"tr":{"name":"Trikorinofalangeal sendromu tip 1 ve 3"}},"xrefs":[{"source":"OMIM","code":"190350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"190351","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"112146379"},{"source":"MONDO","code":"0019176","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":324764,"name":"Trichorhinophalangeal syndrome","classifications":[147,156,187,199]}],"children":[],"genes":[{"symbol":"TRPS1","name":"transcriptional repressor GATA binding 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12340","ensembl":"ENSG00000104447","omim":"604386","loci":["8q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"25628322[PMID]_7790499[PMID]","terms":[{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011910","label":"Shortening of all phalanges of fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001820","label":"Leukonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null}]}}