{"orpha":3293,"name":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by telecanthus, hypertelorism, strabismus, and pes cavus. Facial dysmorphism may also include prominent forehead, epicanthal folds, a mobile soft tissue mass on tip of the nose, hypoplastic philtrum and vermillion border of the thin upper lip. Additional clinical features may include clinodactyly, camptodactyly, bilateral dorsiflexed toes, metatarsus adductus and hallux varus, bilateral posterior dislocation of the radial head, flared metaphyses of the long bones and osteopenia of tubular bones. Bilateral inguinal hernias and penile hypospadias without chordee may also be present. No neurologic signs or motor impairment have been reported. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3293/","orphanet_url":"https://www.orpha.net/en/disease/detail/3293","names":{"fr":{"name":"Syndrome de télécanthus-hypertélorisme-strabisme-pied creux","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un télécanthus, un hypertélorisme, un strabisme et des pieds creux. La dysmorphie faciale peut également inclure un front proéminent, un épicanthus, une masse souple et mobile de tissus mous sur la pointe du nez, un philtrum hypoplasique et un vermillon de la lèvre supérieure fin. D'autres signes cliniques peuvent inclure une clinodactylie, une camptodactylie, une dorsiflexion bilatérale des orteils, un métatarse adductus et un hallux varus, une luxation postérieure bilatérale de la tête radiale, un évasement des métaphyses des os longs et une ostéopénie des os tubulaires. Des hernies inguinales bilatérales et un hypospadias pénien sans chordée peuvent également être présents. Aucun signe neurologique ou trouble moteur n'a été rapporté. Aucun nouveau cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Telekanthus-Hypertelorismus-Strabismus-Pes cavus-Syndrom","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Telekanthus, Hypertelorismus, Strabismus und Pes cavus gekennzeichnet ist. Zu den Gesichtsdysmorphien können auch eine prominente Stirn, Epikanthusfalten, eine bewegliche Gewebeverdichtung an der Nasenspitze, ein hypoplastisches Philtrum und ein Lippenrotrand an der dünnen Oberlippe gehören. Weitere klinische Merkmale können Klinodaktylie, Kamptodaktylie, beidseitige dorsale Zehen, Metatarsus adductus und Hallux varus, beidseitige hintere Dislokation des Radiusköpfchens, verbreiterte Metaphysen der langen Knochen und Osteopenie der Röhrenknochen sein. Auch bilaterale Leistenbrüche und Penishypospadie ohne Chordee können vorhanden sein. Es wurden keine neurologischen Anzeichen oder motorischen Beeinträchtigungen berichtet. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de telecanto-hipertelorismo-estrabismo-pie cavo","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por telecanto, hipertelorismo, estrabismo y pie cavo. La dismorfia facial también puede incluir frente prominente, pliegues epicánticos, una masa móvil de tejido blando en la punta nasal, filtrum hipoplásico y borde bermellón del labio superior fino. Otras características clínicas pueden incluir clinodactilia, camptodactilia, dedos del pie en dorsiflexión bilateral, metatarso aducto y hallux varus, luxación posterior bilateral de la cabeza radial, ensanchamiento de las metáfisis de los huesos largos y osteopenia de los huesos tubulares. También puede asociar hernias inguinales bilaterales e hipospadias peneana sin encordamiento. No se han descrito signos neurológicos ni afectación motora. No se han publicado más casos en la literatura desde 1985."},"it":{"name":"Telecanto - ipertelorismo - strabismo - piede cavo"},"nl":{"name":"Telecanthus - hypertelorisme - strabisme - pes cavus-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door telecanthus, hypertelorisme, strabisme, en pes cavus (holvoet). Faciale dysmorfie omvat mogelijk ook prominent voorhoofd, epicanthusplooien, een mobiele massa van weke delen op de punt van de neus, hypoplastisch filtrum en vermiljoenrand van de dunne bovenlip. Mogelijke bijkomende klinische kenmerken zijn clinodactylie, camptodactylie, bilaterale dorsiflexiedefomiteit van de tenen, metatarsus adductus (adductiedeformiteit van metatarsus) en hallux varus (scheve grote teen), bilaterale posterieure luxatie van radiuskop, metafyses van pijpbeenderen met verbrede uiteinden, en osteopenie van pijpbeenderen. Bilaterale liesbreuk en hypospadie van penis zonder afwijkende kromming van penis kunnen ook aanwezig zijn. Er werden geen neurologische verschijnselen of motorische stoornissen gerapporteerd. Sinds 1985 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de telecanto-hipertelorismoestrabismo-pes cavus"},"pl":{"name":"Telekantus - hiperteloryzm - zez - stopa wydrążona"},"cs":{"name":"Syndrom zahrnující telekantus, hypertelorismus, strabismus a pes cavus"},"uk":{"name":"Синдром телеканта-гіпертелоризму-косоокості-pes cavus","definition":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia."},"zh":{"name":"内眦距离过宽-器官间距过远-斜视-高弓足综合征"},"tr":{"name":"Telekantüslü-hipertelorism-şaşılık-pes kavus sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017997","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931549","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3970067[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3970067[PMID]"}],"phenotypes":null}