{"orpha":2608,"name":"N syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2608/","orphanet_url":"https://www.orpha.net/en/disease/detail/2608","names":{"fr":{"name":"Syndrome N","definition":"Anomalies congénitales multiples rares et létales/syndrome dysmorphique qui se caractérise par une dysmorphie faciale (y compris dolichocéphalie/scaphocéphalie, une implantation haute des cheveux, des paupières supérieures recouvrant le bord des paupières inférieures, un hypertélorisme, des cils proéminents, des yeux enfoncés, une macrocornée, un nystagmus, une dysplasie des oreilles, des anomalies auriculaires, une racine nasale proéminente, une dysplasie dentaire), une déficience visuelle, une surdité, des convulsions, une dysplasie squelettique généralisée, nombre élevé de crêtes digitales, une cryptorchidie, un hypospadias, une spasticité et une déficience intellectuelle sévère. Un nombre élevé de cassures chromosomiques et une malignité lymphoïde létales ont été rapportées. Aucun cas n'a été décrit dans la littérature depuis 1974."},"de":{"name":"N-Syndrom","definition":"Ein letal verlaufendes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien/Dysmorphien. Die Manifestationen umfassen Gesichtsdysmorphien (u.a.. Dolichozephalie/Skaphozephalie, hoher Stirnhaaransatz, seitlich überlappende Oberlider, Hypertelorismus, hervorstehende Wimpern, tiefliegende Augen, Makrokornea, Nystagmus, dysplastische Ohren, abnorme Ohrmuscheln, prominenter Nasenrücken, Zahndysplasie), Sehstörungen, Taubheit, Krampfanfälle, generalisierte Skelettdysplasie, erhöhte Anzahl von Fingerknöchelchen, Kryptorchismus, Hypospadie, Spastizität und schwere Intelligenzminderung. Bei den Patienten wurden vermehrte Chromosomenbrüche und eine fatale lymphoide Malignität beschrieben. Seit 1974 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome N","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas letal y poco frecuente caracterizado por dismorfia facial (incluyendo dolicocefalia/escafocefalia, línea frontal de implantación del cabello alta, párpados superiores lateralmente superpuestos, hipertelorismo, pestañas prominentes, ojos hundidos, macrocórnea, nistagmo, orejas displásicas, pabellones auriculares anómalos, puente nasal prominente, displasia dental), disfunción visual, pérdida auditiva, crisis epilépticas, displasia esquelética generalizada, un recuento de crestas elevado en las huellas dactilares, criptorquidia, hipospadias, espasticidad y grave discapacidad intelectual. Se ha descrito un aumento de la roturas cromosómicas y neoplasia linfoide maligna letal. No ha habido más casos descritos en la literatura desde 1974."},"it":{"name":"Sindrome N","definition":"Si tratta di una malattia rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi facciali (dolicocefalia/scafocefalia, attaccatura alta dei capelli sulla fronte, palpebre superiori sovrapposte lateralmente, ipertelorismo, ciglia prominenti, occhi infossati, macrocornea, nistagmo, orecchie displastiche, anomalie dei padiglioni auricolari, sella nasale prominente, displasia dei denti), compromissione della vista, sordità, crisi epilettiche, displasia scheletrica generalizzata, aumento del numero delle creste sui polpastrelli delle dita, criptorchidismo, ipospadia, spasticità e disabilità intellettiva grave. Sono stati descritti pazienti con un numero elevato di rotture cromosomiche e una neoplasia linfoide maligna. Non sono stati descritti nuovi casi dopo il 1974."},"nl":{"name":"N-syndroom","definition":"Een zeldzaam, fataal meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door faciale dysmorfie (met onder meer dolichocefalie/scafocefalie, hoge frontale haarlijn, lateraal overlappende bovenste oogleden, hypertelorisme, prominente wimpers, diepliggende ogen, macrocornea, nystagmus, dysplastische oren, abnormale oorschelpen, prominente neusbrug, dentale dysplasie), verlies van gezichtsvermogen, doofheid, insulten, gegeneraliseerde skeletdysplasie, groot aantal ribbels op vingerafdrukken, cryptorchisme, hypospadie, spasticiteit en ernstige intellectuele beperking. Een toename van chromosoombreuken en een fatale lymfoïde maligniteit werden ook reeds gerapporteerd. Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome N"},"pl":{"name":"Zespół N"},"cs":{"name":"N syndrom"},"uk":{"name":"N синдром","definition":"A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974."},"zh":{"name":"N综合征"},"tr":{"name":"N sendromu"}},"xrefs":[{"source":"OMIM","code":"310465","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2040480507"},{"source":"MONDO","code":"0010686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3902","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":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4216437[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4216437[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-14","source":"4216437[PMID]_3130873[PMID]_1689958[PMID]","terms":[{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005517","label":"T-cell lymphoma/leukemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}